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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis</title><author><name sortKey="Van Rheenen, Wouter" sort="Van Rheenen, Wouter" uniqKey="Van Rheenen W" first="Wouter" last="Van Rheenen">Wouter Van Rheenen</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Shatunov, Aleksey" sort="Shatunov, Aleksey" uniqKey="Shatunov A" first="Aleksey" last="Shatunov">Aleksey Shatunov</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Dekker, Annelot M" sort="Dekker, Annelot M" uniqKey="Dekker A" first="Annelot M" last="Dekker">Annelot M. Dekker</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mclaughlin, Russell L" sort="Mclaughlin, Russell L" uniqKey="Mclaughlin R" first="Russell L" last="Mclaughlin">Russell L. Mclaughlin</name><affiliation><nlm:aff id="A3">Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Diekstra, Frank P" sort="Diekstra, Frank P" uniqKey="Diekstra F" first="Frank P" last="Diekstra">Frank P. Diekstra</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Pulit, Sara L" sort="Pulit, Sara L" uniqKey="Pulit S" first="Sara L" last="Pulit">Sara L. Pulit</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Spek, Rick A A" sort="Van Der Spek, Rick A A" uniqKey="Van Der Spek R" first="Rick A A" last="Van Der Spek">Rick A A. Van Der Spek</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="V Sa, Urmo" sort="V Sa, Urmo" uniqKey="V Sa U" first="Urmo" last="V Sa">Urmo V Sa</name><affiliation><nlm:aff id="A5">Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Jong, Simone" sort="De Jong, Simone" uniqKey="De Jong S" first="Simone" last="De Jong">Simone De Jong</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A7">NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Robinson, Matthew R" sort="Robinson, Matthew R" uniqKey="Robinson M" first="Matthew R" last="Robinson">Matthew R. Robinson</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Yang, Jian" sort="Yang, Jian" uniqKey="Yang J" first="Jian" last="Yang">Jian Yang</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Fogh, Isabella" sort="Fogh, Isabella" uniqKey="Fogh I" first="Isabella" last="Fogh">Isabella Fogh</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Van Doormaal, Perry Tc" sort="Van Doormaal, Perry Tc" uniqKey="Van Doormaal P" first="Perry Tc" last="Van Doormaal">Perry Tc Van Doormaal</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Tazelaar, Gijs H P" sort="Tazelaar, Gijs H P" uniqKey="Tazelaar G" first="Gijs H P" last="Tazelaar">Gijs H P. Tazelaar</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Koppers, Max" sort="Koppers, Max" uniqKey="Koppers M" first="Max" last="Koppers">Max Koppers</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Blokhuis, Anna M" sort="Blokhuis, Anna M" uniqKey="Blokhuis A" first="Anna M" last="Blokhuis">Anna M. Blokhuis</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Sproviero, William" sort="Sproviero, William" uniqKey="Sproviero W" first="William" last="Sproviero">William Sproviero</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Jones, Ashley R" sort="Jones, Ashley R" uniqKey="Jones A" first="Ashley R" last="Jones">Ashley R. Jones</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Kenna, Kevin P" sort="Kenna, Kevin P" uniqKey="Kenna K" first="Kevin P" last="Kenna">Kevin P. Kenna</name><affiliation><nlm:aff id="A11">Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Van Eijk, Kristel R" sort="Van Eijk, Kristel R" uniqKey="Van Eijk K" first="Kristel R" last="Van Eijk">Kristel R. Van Eijk</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Harschnitz, Oliver" sort="Harschnitz, Oliver" uniqKey="Harschnitz O" first="Oliver" last="Harschnitz">Oliver Harschnitz</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schellevis, Raymond D" sort="Schellevis, Raymond D" uniqKey="Schellevis R" first="Raymond D" last="Schellevis">Raymond D. Schellevis</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Brands, William J" sort="Brands, William J" uniqKey="Brands W" first="William J" last="Brands">William J. Brands</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Medic, Jelena" sort="Medic, Jelena" uniqKey="Medic J" first="Jelena" last="Medic">Jelena Medic</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Menelaou, Androniki" sort="Menelaou, Androniki" uniqKey="Menelaou A" first="Androniki" last="Menelaou">Androniki Menelaou</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vajda, Alice" sort="Vajda, Alice" uniqKey="Vajda A" first="Alice" last="Vajda">Alice Vajda</name><affiliation><nlm:aff id="A12">Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Department of Neurology, Beaumont Hospital, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Ticozzi, Nicola" sort="Ticozzi, Nicola" uniqKey="Ticozzi N" first="Nicola" last="Ticozzi">Nicola Ticozzi</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Lin, Kuang" sort="Lin, Kuang" uniqKey="Lin K" first="Kuang" last="Lin">Kuang Lin</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Rogelj, Boris" sort="Rogelj, Boris" uniqKey="Rogelj B" first="Boris" last="Rogelj">Boris Rogelj</name><affiliation><nlm:aff id="A15">Department of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Biomedical Research Institute BRIS, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Vrabec, Katarina" sort="Vrabec, Katarina" uniqKey="Vrabec K" first="Katarina" last="Vrabec">Katarina Vrabec</name><affiliation><nlm:aff id="A17">Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Ravnik Glava, Metka" sort="Ravnik Glava, Metka" uniqKey="Ravnik Glava M" first="Metka" last="Ravnik-Glava">Metka Ravnik-Glava</name><affiliation><nlm:aff id="A17">Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Koritnik, Blaz" sort="Koritnik, Blaz" uniqKey="Koritnik B" first="Blaž" last="Koritnik">Blaž Koritnik</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Zidar, Janez" sort="Zidar, Janez" uniqKey="Zidar J" first="Janez" last="Zidar">Janez Zidar</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Leonardis, Lea" sort="Leonardis, Lea" uniqKey="Leonardis L" first="Lea" last="Leonardis">Lea Leonardis</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Groselj, Leja Dolenc" sort="Groselj, Leja Dolenc" uniqKey="Groselj L" first="Leja Dolenc" last="Grošelj">Leja Dolenc Grošelj</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Millecamps, Stephanie" sort="Millecamps, Stephanie" uniqKey="Millecamps S" first="Stéphanie" last="Millecamps">Stéphanie Millecamps</name><affiliation><nlm:aff id="A20">Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Salachas, Francois" sort="Salachas, Francois" uniqKey="Salachas F" first="François" last="Salachas">François Salachas</name><affiliation><nlm:aff id="A20">Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Centre de Référence Maladies Rares SLA Ile de France, Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A22">GRC-UPMC SLA et Maladies du Motoneurone, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Meininger, Vincent" sort="Meininger, Vincent" uniqKey="Meininger V" first="Vincent" last="Meininger">Vincent Meininger</name><affiliation><nlm:aff id="A23">Ramsay Generale de Santé, Hôpital Peupliers, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Réseau SLA Ile de France, Paris, France</nlm:aff></affiliation></author><author><name sortKey="De Carvalho, Mamede" sort="De Carvalho, Mamede" uniqKey="De Carvalho M" first="Mamede" last="De Carvalho">Mamede De Carvalho</name><affiliation><nlm:aff id="A25">Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Department of Neurosciences, Hospital de Santa Maria–CHLN, Lisbon, Portugal</nlm:aff></affiliation></author><author><name sortKey="Pinto, Susana" sort="Pinto, Susana" uniqKey="Pinto S" first="Susana" last="Pinto">Susana Pinto</name><affiliation><nlm:aff id="A25">Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Department of Neurosciences, Hospital de Santa Maria–CHLN, Lisbon, Portugal</nlm:aff></affiliation></author><author><name sortKey="Mora, Jesus S" sort="Mora, Jesus S" uniqKey="Mora J" first="Jesus S" last="Mora">Jesus S. Mora</name><affiliation><nlm:aff id="A27">Department of Neurology, Hospital San Rafael, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Rojas Garcia, Ricardo" sort="Rojas Garcia, Ricardo" uniqKey="Rojas Garcia R" first="Ricardo" last="Rojas-García">Ricardo Rojas-García</name><affiliation><nlm:aff id="A28">Neurology Department, Hospital de la Santa Creu i Sant Pau de Barcelona, Autonomous University of Barcelona, Barcelona, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Polak, Meraida" sort="Polak, Meraida" uniqKey="Polak M" first="Meraida" last="Polak">Meraida Polak</name><affiliation><nlm:aff id="A30">Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Chandran, Siddharthan" sort="Chandran, Siddharthan" uniqKey="Chandran S" first="Siddharthan" last="Chandran">Siddharthan Chandran</name><affiliation><nlm:aff id="A32">Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Centre for Neuroregeneration and Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Colville, Shuna" sort="Colville, Shuna" uniqKey="Colville S" first="Shuna" last="Colville">Shuna Colville</name><affiliation><nlm:aff id="A32">Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Swingler, Robert" sort="Swingler, Robert" uniqKey="Swingler R" first="Robert" last="Swingler">Robert Swingler</name><affiliation><nlm:aff id="A32">Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><affiliation><nlm:aff id="A34">Faculty of Medicine, University of Southampton, Southampton, UK</nlm:aff></affiliation></author><author><name sortKey="Shaw, Pamela J" sort="Shaw, Pamela J" uniqKey="Shaw P" first="Pamela J" last="Shaw">Pamela J. Shaw</name><affiliation><nlm:aff id="A35">Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><nlm:aff id="A36">Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Orrell, Richard W" sort="Orrell, Richard W" uniqKey="Orrell R" first="Richard W" last="Orrell">Richard W. Orrell</name><affiliation><nlm:aff id="A37">Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Pittman, Alan" sort="Pittman, Alan" uniqKey="Pittman A" first="Alan" last="Pittman">Alan Pittman</name><affiliation><nlm:aff id="A36">Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A38">Reta Lila Weston Institute, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Sidle, Katie" sort="Sidle, Katie" uniqKey="Sidle K" first="Katie" last="Sidle">Katie Sidle</name><affiliation><nlm:aff id="A37">Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Fratta, Pietro" sort="Fratta, Pietro" uniqKey="Fratta P" first="Pietro" last="Fratta">Pietro Fratta</name><affiliation><nlm:aff id="A39">Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Malaspina, Andrea" sort="Malaspina, Andrea" uniqKey="Malaspina A" first="Andrea" last="Malaspina">Andrea Malaspina</name><affiliation><nlm:aff id="A40">Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A41">North-East London and Essex Regional Motor Neuron Disease Care Centre, London, UK</nlm:aff></affiliation></author><author><name sortKey="Topp, Simon" sort="Topp, Simon" uniqKey="Topp S" first="Simon" last="Topp">Simon Topp</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Petri, Susanne" sort="Petri, Susanne" uniqKey="Petri S" first="Susanne" last="Petri">Susanne Petri</name><affiliation><nlm:aff id="A42">Department of Neurology, Hannover Medical School, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Abdulla, Susanne" sort="Abdulla, Susanne" uniqKey="Abdulla S" first="Susanne" last="Abdulla">Susanne Abdulla</name><affiliation><nlm:aff id="A43">Department of Neurology, Otto von Güricke University Magdeburg, Magdeburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Drepper, Carsten" sort="Drepper, Carsten" uniqKey="Drepper C" first="Carsten" last="Drepper">Carsten Drepper</name><affiliation><nlm:aff id="A44">Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Sendtner, Michael" sort="Sendtner, Michael" uniqKey="Sendtner M" first="Michael" last="Sendtner">Michael Sendtner</name><affiliation><nlm:aff id="A44">Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Meyer, Thomas" sort="Meyer, Thomas" uniqKey="Meyer T" first="Thomas" last="Meyer">Thomas Meyer</name><affiliation><nlm:aff id="A45">Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Ophoff, Roel A" sort="Ophoff, Roel A" uniqKey="Ophoff R" first="Roel A" last="Ophoff">Roel A. Ophoff</name><affiliation><nlm:aff id="A46">Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A48">Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Staats, Kim A" sort="Staats, Kim A" uniqKey="Staats K" first="Kim A" last="Staats">Kim A. Staats</name><affiliation><nlm:aff id="A48">Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Wiedau Pazos, Martina" sort="Wiedau Pazos, Martina" uniqKey="Wiedau Pazos M" first="Martina" last="Wiedau-Pazos">Martina Wiedau-Pazos</name><affiliation><nlm:aff id="A49">Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Lomen Hoerth, Catherine" sort="Lomen Hoerth, Catherine" uniqKey="Lomen Hoerth C" first="Catherine" last="Lomen-Hoerth">Catherine Lomen-Hoerth</name><affiliation><nlm:aff id="A50">Department of Neurology, University of California, San Francisco, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M" last="Van Deerlin">Vivianna M. Van Deerlin</name><affiliation><nlm:aff id="A51">Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name><affiliation><nlm:aff id="A51">Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Elman, Lauren" sort="Elman, Lauren" uniqKey="Elman L" first="Lauren" last="Elman">Lauren Elman</name><affiliation><nlm:aff id="A52">Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Mccluskey, Leo" sort="Mccluskey, Leo" uniqKey="Mccluskey L" first="Leo" last="Mccluskey">Leo Mccluskey</name><affiliation><nlm:aff id="A52">Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Basak, A Nazli" sort="Basak, A Nazli" uniqKey="Basak A" first="A Nazli" last="Basak">A Nazli Basak</name><affiliation><nlm:aff id="A53">Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Tunca, Ceren" sort="Tunca, Ceren" uniqKey="Tunca C" first="Ceren" last="Tunca">Ceren Tunca</name><affiliation><nlm:aff id="A53">Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Hamzeiy, Hamid" sort="Hamzeiy, Hamid" uniqKey="Hamzeiy H" first="Hamid" last="Hamzeiy">Hamid Hamzeiy</name><affiliation><nlm:aff id="A53">Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Parman, Yesim" sort="Parman, Yesim" uniqKey="Parman Y" first="Yesim" last="Parman">Yesim Parman</name><affiliation><nlm:aff id="A54">Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><nlm:aff id="A55">Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation><nlm:aff id="A55">Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Radivojkov Blagojevic, Milena" sort="Radivojkov Blagojevic, Milena" uniqKey="Radivojkov Blagojevic M" first="Milena" last="Radivojkov-Blagojevic">Milena Radivojkov-Blagojevic</name><affiliation><nlm:aff id="A55">Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Andres, Christian R" sort="Andres, Christian R" uniqKey="Andres C" first="Christian R" last="Andres">Christian R. Andres</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Maurel, Cindy" sort="Maurel, Cindy" uniqKey="Maurel C" first="Cindy" last="Maurel">Cindy Maurel</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Bensimon, Gilbert" sort="Bensimon, Gilbert" uniqKey="Bensimon G" first="Gilbert" last="Bensimon">Gilbert Bensimon</name><affiliation><nlm:aff id="A57">AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A58">UPMC, Pharmacologie, Paris VI, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A59">BESPIM, CHU de Nîmes, Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="A61">INSERM U1127, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A62">CNRS UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A63">Sorbonne Universités, UPMC Paris 06, UMRS 1127, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A64">Institut du Cerveau et de la Moelle Epinière, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A65">AP-HP, Département de Génétique, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Payan, Christine A M" sort="Payan, Christine A M" uniqKey="Payan C" first="Christine A M" last="Payan">Christine A M. Payan</name><affiliation><nlm:aff id="A57">AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A59">BESPIM, CHU de Nîmes, Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Saker Delye, Safaa" sort="Saker Delye, Safaa" uniqKey="Saker Delye S" first="Safaa" last="Saker-Delye">Safaa Saker-Delye</name><affiliation><nlm:aff id="A66">Genethon, CNRS UMR 8587, Evry, France</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><nlm:aff id="A67">Department of Medical Genetics, Institut du Cerveau et de la Moelle Epinière, Hôptial Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name><affiliation><nlm:aff id="A68">Department of Neurogenetics, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Tittmann, Lukas" sort="Tittmann, Lukas" uniqKey="Tittmann L" first="Lukas" last="Tittmann">Lukas Tittmann</name><affiliation><nlm:aff id="A69">PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Lieb, Wolfgang" sort="Lieb, Wolfgang" uniqKey="Lieb W" first="Wolfgang" last="Lieb">Wolfgang Lieb</name><affiliation><nlm:aff id="A69">PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Franke, Andre" sort="Franke, Andre" uniqKey="Franke A" first="Andre" last="Franke">Andre Franke</name><affiliation><nlm:aff id="A70">Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Rietschel, Marcella" sort="Rietschel, Marcella" uniqKey="Rietschel M" first="Marcella" last="Rietschel">Marcella Rietschel</name><affiliation><nlm:aff id="A71">Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Faculty of Medicine Mannheim, University of Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Cichon, Sven" sort="Cichon, Sven" uniqKey="Cichon S" first="Sven" last="Cichon">Sven Cichon</name><affiliation><nlm:aff id="A72">Institute of Human Genetics, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A73">Department of Genomics, Life and Brain Center, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A74">Division of Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A75">Department of Biomedicine, University of Basel, Basel, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A76">Institute of Neuroscience and Medicine INM-1, Research Center Juelich, Juelich, Germany</nlm:aff></affiliation></author><author><name sortKey="Nothen, Markus M" sort="Nothen, Markus M" uniqKey="Nothen M" first="Markus M" last="Nöthen">Markus M. Nöthen</name><affiliation><nlm:aff id="A72">Institute of Human Genetics, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A73">Department of Genomics, Life and Brain Center, Bonn, Germany</nlm:aff></affiliation></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><affiliation><nlm:aff id="A77">University of Lille, INSERM, CHU de Lille, Institut Pasteur de Lille, U1167-RID-AGE Risk Factor and Molecular Determinants of Aging Diseases, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Tzourio, Christophe" sort="Tzourio, Christophe" uniqKey="Tzourio C" first="Christophe" last="Tzourio">Christophe Tzourio</name><affiliation><nlm:aff id="A78">Bordeaux University, ISPED, Centre INSERM U1219–Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Dartigues, Jean Francois" sort="Dartigues, Jean Francois" uniqKey="Dartigues J" first="Jean-François" last="Dartigues">Jean-François Dartigues</name><affiliation><nlm:aff id="A78">Bordeaux University, ISPED, Centre INSERM U1219–Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="Andre G" last="Uitterlinden">Andre G. Uitterlinden</name><affiliation><nlm:aff id="A79">Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A80">Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rivadeneira, Fernando" sort="Rivadeneira, Fernando" uniqKey="Rivadeneira F" first="Fernando" last="Rivadeneira">Fernando Rivadeneira</name><affiliation><nlm:aff id="A79">Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A80">Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Estrada, Karol" sort="Estrada, Karol" uniqKey="Estrada K" first="Karol" last="Estrada">Karol Estrada</name><affiliation><nlm:aff id="A79">Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hofman, Albert" sort="Hofman, Albert" uniqKey="Hofman A" first="Albert" last="Hofman">Albert Hofman</name><affiliation><nlm:aff id="A80">Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A81">Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Curtis, Charles" sort="Curtis, Charles" uniqKey="Curtis C" first="Charles" last="Curtis">Charles Curtis</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A7">NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Blauw, Hylke M" sort="Blauw, Hylke M" uniqKey="Blauw H" first="Hylke M" last="Blauw">Hylke M. Blauw</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Kooi, Anneke J" sort="Van Der Kooi, Anneke J" uniqKey="Van Der Kooi A" first="Anneke J" last="Van Der Kooi">Anneke J. Van Der Kooi</name><affiliation><nlm:aff id="A82">Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Visser, Marianne" sort="De Visser, Marianne" uniqKey="De Visser M" first="Marianne" last="De Visser">Marianne De Visser</name><affiliation><nlm:aff id="A82">Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Goris, An" sort="Goris, An" uniqKey="Goris A" first="An" last="Goris">An Goris</name><affiliation><nlm:aff id="A83">Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Weber, Markus" sort="Weber, Markus" uniqKey="Weber M" first="Markus" last="Weber">Markus Weber</name><affiliation><nlm:aff id="A84">Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Shaw, Christopher E" sort="Shaw, Christopher E" uniqKey="Shaw C" first="Christopher E" last="Shaw">Christopher E. Shaw</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Smith, Bradley N" sort="Smith, Bradley N" uniqKey="Smith B" first="Bradley N" last="Smith">Bradley N. Smith</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Pansarasa, Orietta" sort="Pansarasa, Orietta" uniqKey="Pansarasa O" first="Orietta" last="Pansarasa">Orietta Pansarasa</name><affiliation><nlm:aff id="A85">Laboratory of Experimental Neurobiology, IRCCS ‘C. Mondino’ National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name><affiliation><nlm:aff id="A85">Laboratory of Experimental Neurobiology, IRCCS ‘C. Mondino’ National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Bo, Roberto Del" sort="Bo, Roberto Del" uniqKey="Bo R" first="Roberto Del" last="Bo">Roberto Del Bo</name><affiliation><nlm:aff id="A86">Neurologic Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Comi, Giacomo P" sort="Comi, Giacomo P" uniqKey="Comi G" first="Giacomo P" last="Comi">Giacomo P. Comi</name><affiliation><nlm:aff id="A86">Neurologic Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="D Lfonso, Sandra" sort="D Lfonso, Sandra" uniqKey="D Lfonso S" first="Sandra" last="D Lfonso">Sandra D Lfonso</name><affiliation><nlm:aff id="A87">Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Università del Piemonte Orientale, Novara, Italy</nlm:aff></affiliation></author><author><name sortKey="Bertolin, Cinzia" sort="Bertolin, Cinzia" uniqKey="Bertolin C" first="Cinzia" last="Bertolin">Cinzia Bertolin</name><affiliation><nlm:aff id="A88">Department of Neurosciences, University of Padova, Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="Soraru, Gianni" sort="Soraru, Gianni" uniqKey="Soraru G" first="Gianni" last="Sorarù">Gianni Sorarù</name><affiliation><nlm:aff id="A88">Department of Neurosciences, University of Padova, Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="Mazzini, Letizia" sort="Mazzini, Letizia" uniqKey="Mazzini L" first="Letizia" last="Mazzini">Letizia Mazzini</name><affiliation><nlm:aff id="A89">Department of Neurology, Università del Piemonte Orientale, Novara, Italy</nlm:aff></affiliation></author><author><name sortKey="Pensato, Viviana" sort="Pensato, Viviana" uniqKey="Pensato V" first="Viviana" last="Pensato">Viviana Pensato</name><affiliation><nlm:aff id="A90">Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name><affiliation><nlm:aff id="A90">Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Tiloca, Cinzia" sort="Tiloca, Cinzia" uniqKey="Tiloca C" first="Cinzia" last="Tiloca">Cinzia Tiloca</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Ratti, Antonia" sort="Ratti, Antonia" uniqKey="Ratti A" first="Antonia" last="Ratti">Antonia Ratti</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Calvo, Andrea" sort="Calvo, Andrea" uniqKey="Calvo A" first="Andrea" last="Calvo">Andrea Calvo</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Moglia, Cristina" sort="Moglia, Cristina" uniqKey="Moglia C" first="Cristina" last="Moglia">Cristina Moglia</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Brunetti, Maura" sort="Brunetti, Maura" uniqKey="Brunetti M" first="Maura" last="Brunetti">Maura Brunetti</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Arcuti, Simona" sort="Arcuti, Simona" uniqKey="Arcuti S" first="Simona" last="Arcuti">Simona Arcuti</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Capozzo, Rosa" sort="Capozzo, Rosa" uniqKey="Capozzo R" first="Rosa" last="Capozzo">Rosa Capozzo</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Zecca, Chiara" sort="Zecca, Chiara" uniqKey="Zecca C" first="Chiara" last="Zecca">Chiara Zecca</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Lunetta, Christian" sort="Lunetta, Christian" uniqKey="Lunetta C" first="Christian" last="Lunetta">Christian Lunetta</name><affiliation><nlm:aff id="A94">NEMO Clinical Center, Serena Onlus Foundation, Niguarda Ca’ Granda Hostipal, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Penco, Silvana" sort="Penco, Silvana" uniqKey="Penco S" first="Silvana" last="Penco">Silvana Penco</name><affiliation><nlm:aff id="A95">Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca’ Granda Hospital, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Riva, Nilo" sort="Riva, Nilo" uniqKey="Riva N" first="Nilo" last="Riva">Nilo Riva</name><affiliation><nlm:aff id="A96">Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name><affiliation><nlm:aff id="A97">Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name><affiliation><nlm:aff id="A97">Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Muller, Bernard" sort="Muller, Bernard" uniqKey="Muller B" first="Bernard" last="Muller">Bernard Muller</name><affiliation><nlm:aff id="A98">Project MinE Foundation, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stuit, Robbert Jan" sort="Stuit, Robbert Jan" uniqKey="Stuit R" first="Robbert Jan" last="Stuit">Robbert Jan Stuit</name><affiliation><nlm:aff id="A98">Project MinE Foundation, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Blair, Ian" sort="Blair, Ian" uniqKey="Blair I" first="Ian" last="Blair">Ian Blair</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Zhang, Katharine" sort="Zhang, Katharine" uniqKey="Zhang K" first="Katharine" last="Zhang">Katharine Zhang</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Mccann, Emily P" sort="Mccann, Emily P" uniqKey="Mccann E" first="Emily P" last="Mccann">Emily P. Mccann</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Fifita, Jennifer A" sort="Fifita, Jennifer A" uniqKey="Fifita J" first="Jennifer A" last="Fifita">Jennifer A. Fifita</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Nicholson, Garth A" sort="Nicholson, Garth A" uniqKey="Nicholson G" first="Garth A" last="Nicholson">Garth A. Nicholson</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A101">University of Sydney, ANZAC Research Institute, Concord Hospital, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B" last="Rowe">Dominic B. Rowe</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Pamphlett, Roger" sort="Pamphlett, Roger" uniqKey="Pamphlett R" first="Roger" last="Pamphlett">Roger Pamphlett</name><affiliation><nlm:aff id="A102">Stacey MND Laboratory, Department of Pathology, University of Sydney, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Kiernan, Matthew C" sort="Kiernan, Matthew C" uniqKey="Kiernan M" first="Matthew C" last="Kiernan">Matthew C. Kiernan</name><affiliation><nlm:aff id="A103">Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Grosskreutz, Julian" sort="Grosskreutz, Julian" uniqKey="Grosskreutz J" first="Julian" last="Grosskreutz">Julian Grosskreutz</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Witte, Otto W" sort="Witte, Otto W" uniqKey="Witte O" first="Otto W" last="Witte">Otto W. Witte</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Ringer, Thomas" sort="Ringer, Thomas" uniqKey="Ringer T" first="Thomas" last="Ringer">Thomas Ringer</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Prell, Tino" sort="Prell, Tino" uniqKey="Prell T" first="Tino" last="Prell">Tino Prell</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Stubendorff, Beatrice" sort="Stubendorff, Beatrice" uniqKey="Stubendorff B" first="Beatrice" last="Stubendorff">Beatrice Stubendorff</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Kurth, Ingo" sort="Kurth, Ingo" uniqKey="Kurth I" first="Ingo" last="Kurth">Ingo Kurth</name><affiliation><nlm:aff id="A105">Institute of Human Genetics, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Hubner, Christian A" sort="Hubner, Christian A" uniqKey="Hubner C" first="Christian A" last="Hübner">Christian A. Hübner</name><affiliation><nlm:aff id="A105">Institute of Human Genetics, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Leigh, P Nigel" sort="Leigh, P Nigel" uniqKey="Leigh P" first="P Nigel" last="Leigh">P Nigel Leigh</name><affiliation><nlm:aff id="A106">Department of Neurology, Brighton and Sussex Medical School Trafford Centre for Biomedical Research, University of Sussex, Falmer, UK</nlm:aff></affiliation></author><author><name sortKey="Casale, Federico" sort="Casale, Federico" uniqKey="Casale F" first="Federico" last="Casale">Federico Casale</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Chio, Adriano" sort="Chio, Adriano" uniqKey="Chio A" first="Adriano" last="Chio">Adriano Chio</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Beghi, Ettore" sort="Beghi, Ettore" uniqKey="Beghi E" first="Ettore" last="Beghi">Ettore Beghi</name><affiliation><nlm:aff id="A107">Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Pupillo, Elisabetta" sort="Pupillo, Elisabetta" uniqKey="Pupillo E" first="Elisabetta" last="Pupillo">Elisabetta Pupillo</name><affiliation><nlm:aff id="A107">Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Tortelli, Rosanna" sort="Tortelli, Rosanna" uniqKey="Tortelli R" first="Rosanna" last="Tortelli">Rosanna Tortelli</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Logroscino, Giancarlo" sort="Logroscino, Giancarlo" uniqKey="Logroscino G" first="Giancarlo" last="Logroscino">Giancarlo Logroscino</name><affiliation><nlm:aff id="A108">Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari ‘Aldo Moro’, Bari, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A109">Unit of Neurodegenerative Diseases, Department of Clinical Research in Neurology, University of Bari ‘Aldo Moro’ at Pia Fondazione Cardinale G. Panico, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Powell, John" sort="Powell, John" uniqKey="Powell J" first="John" last="Powell">John Powell</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Ludolph, Albert C" sort="Ludolph, Albert C" uniqKey="Ludolph A" first="Albert C" last="Ludolph">Albert C. Ludolph</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Weishaupt, Jochen H" sort="Weishaupt, Jochen H" uniqKey="Weishaupt J" first="Jochen H" last="Weishaupt">Jochen H. Weishaupt</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name><affiliation><nlm:aff id="A83">Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A110">Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A111">Department of Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Damme, Philip" sort="Van Damme, Philip" uniqKey="Van Damme P" first="Philip" last="Van Damme">Philip Van Damme</name><affiliation><nlm:aff id="A83">Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A110">Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A111">Department of Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Franke, Lude" sort="Franke, Lude" uniqKey="Franke L" first="Lude" last="Franke">Lude Franke</name><affiliation><nlm:aff id="A5">Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Pers, Tune H" sort="Pers, Tune H" uniqKey="Pers T" first="Tune H" last="Pers">Tune H. Pers</name><affiliation><nlm:aff id="A112">Division of Endocrinology, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A113">Division of Genetics, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A114">Center for Basic Translational Obesity Research, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A115">Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A116">Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Brown, Robert H" sort="Brown, Robert H" uniqKey="Brown R" first="Robert H" last="Brown">Robert H. Brown</name><affiliation><nlm:aff id="A11">Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Glass, Jonathan D" sort="Glass, Jonathan D" uniqKey="Glass J" first="Jonathan D" last="Glass">Jonathan D. Glass</name><affiliation><nlm:aff id="A30">Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Landers, John E" sort="Landers, John E" uniqKey="Landers J" first="John E" last="Landers">John E. Landers</name><affiliation><nlm:aff id="A11">Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Hardiman, Orla" sort="Hardiman, Orla" uniqKey="Hardiman O" first="Orla" last="Hardiman">Orla Hardiman</name><affiliation><nlm:aff id="A12">Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Department of Neurology, Beaumont Hospital, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Andersen, Peter M" sort="Andersen, Peter M" uniqKey="Andersen P" first="Peter M" last="Andersen">Peter M. Andersen</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A117">Department of Pharmacology and Clinical Neurosience, Umeå University, Umeå, Sweden</nlm:aff></affiliation></author><author><name sortKey="Corcia, Philippe" sort="Corcia, Philippe" uniqKey="Corcia P" first="Philippe" last="Corcia">Philippe Corcia</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="A118">Centre SLA, CHRU de Tours, Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="A119">Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Vourc, Patrick" sort="Vourc, Patrick" uniqKey="Vourc P" first="Patrick" last="Vourc">Patrick Vourc</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Silani, Vincenzo" sort="Silani, Vincenzo" uniqKey="Silani V" first="Vincenzo" last="Silani">Vincenzo Silani</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Wray, Naomi R" sort="Wray, Naomi R" uniqKey="Wray N" first="Naomi R" last="Wray">Naomi R. Wray</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Visscher, Peter M" sort="Visscher, Peter M" uniqKey="Visscher P" first="Peter M" last="Visscher">Peter M. Visscher</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A120">Diamantina Institute, University of Queensland Translational Research Institute, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="De Bakker, Paul I W" sort="De Bakker, Paul I W" uniqKey="De Bakker P" first="Paul I W" last="De Bakker">Paul I W. De Bakker</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A121">Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Es, Michael A" sort="Van Es, Michael A" uniqKey="Van Es M" first="Michael A" last="Van Es">Michael A. Van Es</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Pasterkamp, R Jeroen" sort="Pasterkamp, R Jeroen" uniqKey="Pasterkamp R" first="R Jeroen" last="Pasterkamp">R Jeroen Pasterkamp</name><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Lewis, Cathryn M" sort="Lewis, Cathryn M" uniqKey="Lewis C" first="Cathryn M" last="Lewis">Cathryn M. Lewis</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A122">Department of Medical and Molecular Genetics, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Breen, Gerome" sort="Breen, Gerome" uniqKey="Breen G" first="Gerome" last="Breen">Gerome Breen</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A7">NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Al Chalabi, Ammar" sort="Al Chalabi, Ammar" uniqKey="Al Chalabi A" first="Ammar" last="Al-Chalabi">Ammar Al-Chalabi</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Van Den Berg, Leonard H" sort="Van Den Berg, Leonard H" uniqKey="Van Den Berg L" first="Leonard H" last="Van Den Berg">Leonard H. Van Den Berg</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Veldink, Jan H" sort="Veldink, Jan H" uniqKey="Veldink J" first="Jan H" last="Veldink">Jan H. Veldink</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27455348</idno><idno type="pmc">5556360</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360</idno><idno type="RBID">PMC:5556360</idno><idno type="doi">10.1038/ng.3622</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002153</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002153</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis</title><author><name sortKey="Van Rheenen, Wouter" sort="Van Rheenen, Wouter" uniqKey="Van Rheenen W" first="Wouter" last="Van Rheenen">Wouter Van Rheenen</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Shatunov, Aleksey" sort="Shatunov, Aleksey" uniqKey="Shatunov A" first="Aleksey" last="Shatunov">Aleksey Shatunov</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Dekker, Annelot M" sort="Dekker, Annelot M" uniqKey="Dekker A" first="Annelot M" last="Dekker">Annelot M. Dekker</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mclaughlin, Russell L" sort="Mclaughlin, Russell L" uniqKey="Mclaughlin R" first="Russell L" last="Mclaughlin">Russell L. Mclaughlin</name><affiliation><nlm:aff id="A3">Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Diekstra, Frank P" sort="Diekstra, Frank P" uniqKey="Diekstra F" first="Frank P" last="Diekstra">Frank P. Diekstra</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Pulit, Sara L" sort="Pulit, Sara L" uniqKey="Pulit S" first="Sara L" last="Pulit">Sara L. Pulit</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Spek, Rick A A" sort="Van Der Spek, Rick A A" uniqKey="Van Der Spek R" first="Rick A A" last="Van Der Spek">Rick A A. Van Der Spek</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="V Sa, Urmo" sort="V Sa, Urmo" uniqKey="V Sa U" first="Urmo" last="V Sa">Urmo V Sa</name><affiliation><nlm:aff id="A5">Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Jong, Simone" sort="De Jong, Simone" uniqKey="De Jong S" first="Simone" last="De Jong">Simone De Jong</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A7">NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Robinson, Matthew R" sort="Robinson, Matthew R" uniqKey="Robinson M" first="Matthew R" last="Robinson">Matthew R. Robinson</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Yang, Jian" sort="Yang, Jian" uniqKey="Yang J" first="Jian" last="Yang">Jian Yang</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Fogh, Isabella" sort="Fogh, Isabella" uniqKey="Fogh I" first="Isabella" last="Fogh">Isabella Fogh</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Van Doormaal, Perry Tc" sort="Van Doormaal, Perry Tc" uniqKey="Van Doormaal P" first="Perry Tc" last="Van Doormaal">Perry Tc Van Doormaal</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Tazelaar, Gijs H P" sort="Tazelaar, Gijs H P" uniqKey="Tazelaar G" first="Gijs H P" last="Tazelaar">Gijs H P. Tazelaar</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Koppers, Max" sort="Koppers, Max" uniqKey="Koppers M" first="Max" last="Koppers">Max Koppers</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Blokhuis, Anna M" sort="Blokhuis, Anna M" uniqKey="Blokhuis A" first="Anna M" last="Blokhuis">Anna M. Blokhuis</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Sproviero, William" sort="Sproviero, William" uniqKey="Sproviero W" first="William" last="Sproviero">William Sproviero</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Jones, Ashley R" sort="Jones, Ashley R" uniqKey="Jones A" first="Ashley R" last="Jones">Ashley R. Jones</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Kenna, Kevin P" sort="Kenna, Kevin P" uniqKey="Kenna K" first="Kevin P" last="Kenna">Kevin P. Kenna</name><affiliation><nlm:aff id="A11">Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Van Eijk, Kristel R" sort="Van Eijk, Kristel R" uniqKey="Van Eijk K" first="Kristel R" last="Van Eijk">Kristel R. Van Eijk</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Harschnitz, Oliver" sort="Harschnitz, Oliver" uniqKey="Harschnitz O" first="Oliver" last="Harschnitz">Oliver Harschnitz</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schellevis, Raymond D" sort="Schellevis, Raymond D" uniqKey="Schellevis R" first="Raymond D" last="Schellevis">Raymond D. Schellevis</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Brands, William J" sort="Brands, William J" uniqKey="Brands W" first="William J" last="Brands">William J. Brands</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Medic, Jelena" sort="Medic, Jelena" uniqKey="Medic J" first="Jelena" last="Medic">Jelena Medic</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Menelaou, Androniki" sort="Menelaou, Androniki" uniqKey="Menelaou A" first="Androniki" last="Menelaou">Androniki Menelaou</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vajda, Alice" sort="Vajda, Alice" uniqKey="Vajda A" first="Alice" last="Vajda">Alice Vajda</name><affiliation><nlm:aff id="A12">Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Department of Neurology, Beaumont Hospital, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Ticozzi, Nicola" sort="Ticozzi, Nicola" uniqKey="Ticozzi N" first="Nicola" last="Ticozzi">Nicola Ticozzi</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Lin, Kuang" sort="Lin, Kuang" uniqKey="Lin K" first="Kuang" last="Lin">Kuang Lin</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Rogelj, Boris" sort="Rogelj, Boris" uniqKey="Rogelj B" first="Boris" last="Rogelj">Boris Rogelj</name><affiliation><nlm:aff id="A15">Department of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Biomedical Research Institute BRIS, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Vrabec, Katarina" sort="Vrabec, Katarina" uniqKey="Vrabec K" first="Katarina" last="Vrabec">Katarina Vrabec</name><affiliation><nlm:aff id="A17">Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Ravnik Glava, Metka" sort="Ravnik Glava, Metka" uniqKey="Ravnik Glava M" first="Metka" last="Ravnik-Glava">Metka Ravnik-Glava</name><affiliation><nlm:aff id="A17">Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Koritnik, Blaz" sort="Koritnik, Blaz" uniqKey="Koritnik B" first="Blaž" last="Koritnik">Blaž Koritnik</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Zidar, Janez" sort="Zidar, Janez" uniqKey="Zidar J" first="Janez" last="Zidar">Janez Zidar</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Leonardis, Lea" sort="Leonardis, Lea" uniqKey="Leonardis L" first="Lea" last="Leonardis">Lea Leonardis</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Groselj, Leja Dolenc" sort="Groselj, Leja Dolenc" uniqKey="Groselj L" first="Leja Dolenc" last="Grošelj">Leja Dolenc Grošelj</name><affiliation><nlm:aff id="A19">Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Millecamps, Stephanie" sort="Millecamps, Stephanie" uniqKey="Millecamps S" first="Stéphanie" last="Millecamps">Stéphanie Millecamps</name><affiliation><nlm:aff id="A20">Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Salachas, Francois" sort="Salachas, Francois" uniqKey="Salachas F" first="François" last="Salachas">François Salachas</name><affiliation><nlm:aff id="A20">Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Centre de Référence Maladies Rares SLA Ile de France, Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A22">GRC-UPMC SLA et Maladies du Motoneurone, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Meininger, Vincent" sort="Meininger, Vincent" uniqKey="Meininger V" first="Vincent" last="Meininger">Vincent Meininger</name><affiliation><nlm:aff id="A23">Ramsay Generale de Santé, Hôpital Peupliers, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Réseau SLA Ile de France, Paris, France</nlm:aff></affiliation></author><author><name sortKey="De Carvalho, Mamede" sort="De Carvalho, Mamede" uniqKey="De Carvalho M" first="Mamede" last="De Carvalho">Mamede De Carvalho</name><affiliation><nlm:aff id="A25">Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Department of Neurosciences, Hospital de Santa Maria–CHLN, Lisbon, Portugal</nlm:aff></affiliation></author><author><name sortKey="Pinto, Susana" sort="Pinto, Susana" uniqKey="Pinto S" first="Susana" last="Pinto">Susana Pinto</name><affiliation><nlm:aff id="A25">Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Department of Neurosciences, Hospital de Santa Maria–CHLN, Lisbon, Portugal</nlm:aff></affiliation></author><author><name sortKey="Mora, Jesus S" sort="Mora, Jesus S" uniqKey="Mora J" first="Jesus S" last="Mora">Jesus S. Mora</name><affiliation><nlm:aff id="A27">Department of Neurology, Hospital San Rafael, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Rojas Garcia, Ricardo" sort="Rojas Garcia, Ricardo" uniqKey="Rojas Garcia R" first="Ricardo" last="Rojas-García">Ricardo Rojas-García</name><affiliation><nlm:aff id="A28">Neurology Department, Hospital de la Santa Creu i Sant Pau de Barcelona, Autonomous University of Barcelona, Barcelona, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Polak, Meraida" sort="Polak, Meraida" uniqKey="Polak M" first="Meraida" last="Polak">Meraida Polak</name><affiliation><nlm:aff id="A30">Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Chandran, Siddharthan" sort="Chandran, Siddharthan" uniqKey="Chandran S" first="Siddharthan" last="Chandran">Siddharthan Chandran</name><affiliation><nlm:aff id="A32">Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Centre for Neuroregeneration and Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Colville, Shuna" sort="Colville, Shuna" uniqKey="Colville S" first="Shuna" last="Colville">Shuna Colville</name><affiliation><nlm:aff id="A32">Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Swingler, Robert" sort="Swingler, Robert" uniqKey="Swingler R" first="Robert" last="Swingler">Robert Swingler</name><affiliation><nlm:aff id="A32">Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><affiliation><nlm:aff id="A34">Faculty of Medicine, University of Southampton, Southampton, UK</nlm:aff></affiliation></author><author><name sortKey="Shaw, Pamela J" sort="Shaw, Pamela J" uniqKey="Shaw P" first="Pamela J" last="Shaw">Pamela J. Shaw</name><affiliation><nlm:aff id="A35">Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK</nlm:aff></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><nlm:aff id="A36">Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Orrell, Richard W" sort="Orrell, Richard W" uniqKey="Orrell R" first="Richard W" last="Orrell">Richard W. Orrell</name><affiliation><nlm:aff id="A37">Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Pittman, Alan" sort="Pittman, Alan" uniqKey="Pittman A" first="Alan" last="Pittman">Alan Pittman</name><affiliation><nlm:aff id="A36">Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A38">Reta Lila Weston Institute, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Sidle, Katie" sort="Sidle, Katie" uniqKey="Sidle K" first="Katie" last="Sidle">Katie Sidle</name><affiliation><nlm:aff id="A37">Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Fratta, Pietro" sort="Fratta, Pietro" uniqKey="Fratta P" first="Pietro" last="Fratta">Pietro Fratta</name><affiliation><nlm:aff id="A39">Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Malaspina, Andrea" sort="Malaspina, Andrea" uniqKey="Malaspina A" first="Andrea" last="Malaspina">Andrea Malaspina</name><affiliation><nlm:aff id="A40">Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A41">North-East London and Essex Regional Motor Neuron Disease Care Centre, London, UK</nlm:aff></affiliation></author><author><name sortKey="Topp, Simon" sort="Topp, Simon" uniqKey="Topp S" first="Simon" last="Topp">Simon Topp</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Petri, Susanne" sort="Petri, Susanne" uniqKey="Petri S" first="Susanne" last="Petri">Susanne Petri</name><affiliation><nlm:aff id="A42">Department of Neurology, Hannover Medical School, Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Abdulla, Susanne" sort="Abdulla, Susanne" uniqKey="Abdulla S" first="Susanne" last="Abdulla">Susanne Abdulla</name><affiliation><nlm:aff id="A43">Department of Neurology, Otto von Güricke University Magdeburg, Magdeburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Drepper, Carsten" sort="Drepper, Carsten" uniqKey="Drepper C" first="Carsten" last="Drepper">Carsten Drepper</name><affiliation><nlm:aff id="A44">Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Sendtner, Michael" sort="Sendtner, Michael" uniqKey="Sendtner M" first="Michael" last="Sendtner">Michael Sendtner</name><affiliation><nlm:aff id="A44">Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Meyer, Thomas" sort="Meyer, Thomas" uniqKey="Meyer T" first="Thomas" last="Meyer">Thomas Meyer</name><affiliation><nlm:aff id="A45">Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Ophoff, Roel A" sort="Ophoff, Roel A" uniqKey="Ophoff R" first="Roel A" last="Ophoff">Roel A. Ophoff</name><affiliation><nlm:aff id="A46">Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A48">Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Staats, Kim A" sort="Staats, Kim A" uniqKey="Staats K" first="Kim A" last="Staats">Kim A. Staats</name><affiliation><nlm:aff id="A48">Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Wiedau Pazos, Martina" sort="Wiedau Pazos, Martina" uniqKey="Wiedau Pazos M" first="Martina" last="Wiedau-Pazos">Martina Wiedau-Pazos</name><affiliation><nlm:aff id="A49">Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA</nlm:aff></affiliation></author><author><name sortKey="Lomen Hoerth, Catherine" sort="Lomen Hoerth, Catherine" uniqKey="Lomen Hoerth C" first="Catherine" last="Lomen-Hoerth">Catherine Lomen-Hoerth</name><affiliation><nlm:aff id="A50">Department of Neurology, University of California, San Francisco, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M" last="Van Deerlin">Vivianna M. Van Deerlin</name><affiliation><nlm:aff id="A51">Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name><affiliation><nlm:aff id="A51">Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Elman, Lauren" sort="Elman, Lauren" uniqKey="Elman L" first="Lauren" last="Elman">Lauren Elman</name><affiliation><nlm:aff id="A52">Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Mccluskey, Leo" sort="Mccluskey, Leo" uniqKey="Mccluskey L" first="Leo" last="Mccluskey">Leo Mccluskey</name><affiliation><nlm:aff id="A52">Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Basak, A Nazli" sort="Basak, A Nazli" uniqKey="Basak A" first="A Nazli" last="Basak">A Nazli Basak</name><affiliation><nlm:aff id="A53">Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Tunca, Ceren" sort="Tunca, Ceren" uniqKey="Tunca C" first="Ceren" last="Tunca">Ceren Tunca</name><affiliation><nlm:aff id="A53">Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Hamzeiy, Hamid" sort="Hamzeiy, Hamid" uniqKey="Hamzeiy H" first="Hamid" last="Hamzeiy">Hamid Hamzeiy</name><affiliation><nlm:aff id="A53">Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Parman, Yesim" sort="Parman, Yesim" uniqKey="Parman Y" first="Yesim" last="Parman">Yesim Parman</name><affiliation><nlm:aff id="A54">Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><nlm:aff id="A55">Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation><nlm:aff id="A55">Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Radivojkov Blagojevic, Milena" sort="Radivojkov Blagojevic, Milena" uniqKey="Radivojkov Blagojevic M" first="Milena" last="Radivojkov-Blagojevic">Milena Radivojkov-Blagojevic</name><affiliation><nlm:aff id="A55">Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Andres, Christian R" sort="Andres, Christian R" uniqKey="Andres C" first="Christian R" last="Andres">Christian R. Andres</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Maurel, Cindy" sort="Maurel, Cindy" uniqKey="Maurel C" first="Cindy" last="Maurel">Cindy Maurel</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Bensimon, Gilbert" sort="Bensimon, Gilbert" uniqKey="Bensimon G" first="Gilbert" last="Bensimon">Gilbert Bensimon</name><affiliation><nlm:aff id="A57">AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A58">UPMC, Pharmacologie, Paris VI, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A59">BESPIM, CHU de Nîmes, Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><nlm:aff id="A61">INSERM U1127, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A62">CNRS UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A63">Sorbonne Universités, UPMC Paris 06, UMRS 1127, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A64">Institut du Cerveau et de la Moelle Epinière, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A65">AP-HP, Département de Génétique, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Payan, Christine A M" sort="Payan, Christine A M" uniqKey="Payan C" first="Christine A M" last="Payan">Christine A M. Payan</name><affiliation><nlm:aff id="A57">AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A59">BESPIM, CHU de Nîmes, Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Saker Delye, Safaa" sort="Saker Delye, Safaa" uniqKey="Saker Delye S" first="Safaa" last="Saker-Delye">Safaa Saker-Delye</name><affiliation><nlm:aff id="A66">Genethon, CNRS UMR 8587, Evry, France</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><nlm:aff id="A67">Department of Medical Genetics, Institut du Cerveau et de la Moelle Epinière, Hôptial Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name><affiliation><nlm:aff id="A68">Department of Neurogenetics, Institute of Neurology, University College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Tittmann, Lukas" sort="Tittmann, Lukas" uniqKey="Tittmann L" first="Lukas" last="Tittmann">Lukas Tittmann</name><affiliation><nlm:aff id="A69">PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Lieb, Wolfgang" sort="Lieb, Wolfgang" uniqKey="Lieb W" first="Wolfgang" last="Lieb">Wolfgang Lieb</name><affiliation><nlm:aff id="A69">PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Franke, Andre" sort="Franke, Andre" uniqKey="Franke A" first="Andre" last="Franke">Andre Franke</name><affiliation><nlm:aff id="A70">Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany</nlm:aff></affiliation></author><author><name sortKey="Rietschel, Marcella" sort="Rietschel, Marcella" uniqKey="Rietschel M" first="Marcella" last="Rietschel">Marcella Rietschel</name><affiliation><nlm:aff id="A71">Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Faculty of Medicine Mannheim, University of Heidelberg, Heidelberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Cichon, Sven" sort="Cichon, Sven" uniqKey="Cichon S" first="Sven" last="Cichon">Sven Cichon</name><affiliation><nlm:aff id="A72">Institute of Human Genetics, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A73">Department of Genomics, Life and Brain Center, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A74">Division of Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A75">Department of Biomedicine, University of Basel, Basel, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A76">Institute of Neuroscience and Medicine INM-1, Research Center Juelich, Juelich, Germany</nlm:aff></affiliation></author><author><name sortKey="Nothen, Markus M" sort="Nothen, Markus M" uniqKey="Nothen M" first="Markus M" last="Nöthen">Markus M. Nöthen</name><affiliation><nlm:aff id="A72">Institute of Human Genetics, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A73">Department of Genomics, Life and Brain Center, Bonn, Germany</nlm:aff></affiliation></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><affiliation><nlm:aff id="A77">University of Lille, INSERM, CHU de Lille, Institut Pasteur de Lille, U1167-RID-AGE Risk Factor and Molecular Determinants of Aging Diseases, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Tzourio, Christophe" sort="Tzourio, Christophe" uniqKey="Tzourio C" first="Christophe" last="Tzourio">Christophe Tzourio</name><affiliation><nlm:aff id="A78">Bordeaux University, ISPED, Centre INSERM U1219–Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Dartigues, Jean Francois" sort="Dartigues, Jean Francois" uniqKey="Dartigues J" first="Jean-François" last="Dartigues">Jean-François Dartigues</name><affiliation><nlm:aff id="A78">Bordeaux University, ISPED, Centre INSERM U1219–Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="Andre G" last="Uitterlinden">Andre G. Uitterlinden</name><affiliation><nlm:aff id="A79">Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A80">Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Rivadeneira, Fernando" sort="Rivadeneira, Fernando" uniqKey="Rivadeneira F" first="Fernando" last="Rivadeneira">Fernando Rivadeneira</name><affiliation><nlm:aff id="A79">Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A80">Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Estrada, Karol" sort="Estrada, Karol" uniqKey="Estrada K" first="Karol" last="Estrada">Karol Estrada</name><affiliation><nlm:aff id="A79">Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hofman, Albert" sort="Hofman, Albert" uniqKey="Hofman A" first="Albert" last="Hofman">Albert Hofman</name><affiliation><nlm:aff id="A80">Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A81">Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Curtis, Charles" sort="Curtis, Charles" uniqKey="Curtis C" first="Charles" last="Curtis">Charles Curtis</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A7">NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Blauw, Hylke M" sort="Blauw, Hylke M" uniqKey="Blauw H" first="Hylke M" last="Blauw">Hylke M. Blauw</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Kooi, Anneke J" sort="Van Der Kooi, Anneke J" uniqKey="Van Der Kooi A" first="Anneke J" last="Van Der Kooi">Anneke J. Van Der Kooi</name><affiliation><nlm:aff id="A82">Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Visser, Marianne" sort="De Visser, Marianne" uniqKey="De Visser M" first="Marianne" last="De Visser">Marianne De Visser</name><affiliation><nlm:aff id="A82">Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Goris, An" sort="Goris, An" uniqKey="Goris A" first="An" last="Goris">An Goris</name><affiliation><nlm:aff id="A83">Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Weber, Markus" sort="Weber, Markus" uniqKey="Weber M" first="Markus" last="Weber">Markus Weber</name><affiliation><nlm:aff id="A84">Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Shaw, Christopher E" sort="Shaw, Christopher E" uniqKey="Shaw C" first="Christopher E" last="Shaw">Christopher E. Shaw</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Smith, Bradley N" sort="Smith, Bradley N" uniqKey="Smith B" first="Bradley N" last="Smith">Bradley N. Smith</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Pansarasa, Orietta" sort="Pansarasa, Orietta" uniqKey="Pansarasa O" first="Orietta" last="Pansarasa">Orietta Pansarasa</name><affiliation><nlm:aff id="A85">Laboratory of Experimental Neurobiology, IRCCS ‘C. Mondino’ National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name><affiliation><nlm:aff id="A85">Laboratory of Experimental Neurobiology, IRCCS ‘C. Mondino’ National Institute of Neurology Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Bo, Roberto Del" sort="Bo, Roberto Del" uniqKey="Bo R" first="Roberto Del" last="Bo">Roberto Del Bo</name><affiliation><nlm:aff id="A86">Neurologic Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Comi, Giacomo P" sort="Comi, Giacomo P" uniqKey="Comi G" first="Giacomo P" last="Comi">Giacomo P. Comi</name><affiliation><nlm:aff id="A86">Neurologic Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="D Lfonso, Sandra" sort="D Lfonso, Sandra" uniqKey="D Lfonso S" first="Sandra" last="D Lfonso">Sandra D Lfonso</name><affiliation><nlm:aff id="A87">Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Università del Piemonte Orientale, Novara, Italy</nlm:aff></affiliation></author><author><name sortKey="Bertolin, Cinzia" sort="Bertolin, Cinzia" uniqKey="Bertolin C" first="Cinzia" last="Bertolin">Cinzia Bertolin</name><affiliation><nlm:aff id="A88">Department of Neurosciences, University of Padova, Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="Soraru, Gianni" sort="Soraru, Gianni" uniqKey="Soraru G" first="Gianni" last="Sorarù">Gianni Sorarù</name><affiliation><nlm:aff id="A88">Department of Neurosciences, University of Padova, Padova, Italy</nlm:aff></affiliation></author><author><name sortKey="Mazzini, Letizia" sort="Mazzini, Letizia" uniqKey="Mazzini L" first="Letizia" last="Mazzini">Letizia Mazzini</name><affiliation><nlm:aff id="A89">Department of Neurology, Università del Piemonte Orientale, Novara, Italy</nlm:aff></affiliation></author><author><name sortKey="Pensato, Viviana" sort="Pensato, Viviana" uniqKey="Pensato V" first="Viviana" last="Pensato">Viviana Pensato</name><affiliation><nlm:aff id="A90">Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Gellera, Cinzia" sort="Gellera, Cinzia" uniqKey="Gellera C" first="Cinzia" last="Gellera">Cinzia Gellera</name><affiliation><nlm:aff id="A90">Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Tiloca, Cinzia" sort="Tiloca, Cinzia" uniqKey="Tiloca C" first="Cinzia" last="Tiloca">Cinzia Tiloca</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Ratti, Antonia" sort="Ratti, Antonia" uniqKey="Ratti A" first="Antonia" last="Ratti">Antonia Ratti</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Calvo, Andrea" sort="Calvo, Andrea" uniqKey="Calvo A" first="Andrea" last="Calvo">Andrea Calvo</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Moglia, Cristina" sort="Moglia, Cristina" uniqKey="Moglia C" first="Cristina" last="Moglia">Cristina Moglia</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Brunetti, Maura" sort="Brunetti, Maura" uniqKey="Brunetti M" first="Maura" last="Brunetti">Maura Brunetti</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Arcuti, Simona" sort="Arcuti, Simona" uniqKey="Arcuti S" first="Simona" last="Arcuti">Simona Arcuti</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Capozzo, Rosa" sort="Capozzo, Rosa" uniqKey="Capozzo R" first="Rosa" last="Capozzo">Rosa Capozzo</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Zecca, Chiara" sort="Zecca, Chiara" uniqKey="Zecca C" first="Chiara" last="Zecca">Chiara Zecca</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Lunetta, Christian" sort="Lunetta, Christian" uniqKey="Lunetta C" first="Christian" last="Lunetta">Christian Lunetta</name><affiliation><nlm:aff id="A94">NEMO Clinical Center, Serena Onlus Foundation, Niguarda Ca’ Granda Hostipal, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Penco, Silvana" sort="Penco, Silvana" uniqKey="Penco S" first="Silvana" last="Penco">Silvana Penco</name><affiliation><nlm:aff id="A95">Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca’ Granda Hospital, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Riva, Nilo" sort="Riva, Nilo" uniqKey="Riva N" first="Nilo" last="Riva">Nilo Riva</name><affiliation><nlm:aff id="A96">Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name><affiliation><nlm:aff id="A97">Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name><affiliation><nlm:aff id="A97">Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy</nlm:aff></affiliation></author><author><name sortKey="Muller, Bernard" sort="Muller, Bernard" uniqKey="Muller B" first="Bernard" last="Muller">Bernard Muller</name><affiliation><nlm:aff id="A98">Project MinE Foundation, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stuit, Robbert Jan" sort="Stuit, Robbert Jan" uniqKey="Stuit R" first="Robbert Jan" last="Stuit">Robbert Jan Stuit</name><affiliation><nlm:aff id="A98">Project MinE Foundation, Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Blair, Ian" sort="Blair, Ian" uniqKey="Blair I" first="Ian" last="Blair">Ian Blair</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Zhang, Katharine" sort="Zhang, Katharine" uniqKey="Zhang K" first="Katharine" last="Zhang">Katharine Zhang</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Mccann, Emily P" sort="Mccann, Emily P" uniqKey="Mccann E" first="Emily P" last="Mccann">Emily P. Mccann</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Fifita, Jennifer A" sort="Fifita, Jennifer A" uniqKey="Fifita J" first="Jennifer A" last="Fifita">Jennifer A. Fifita</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Nicholson, Garth A" sort="Nicholson, Garth A" uniqKey="Nicholson G" first="Garth A" last="Nicholson">Garth A. Nicholson</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A101">University of Sydney, ANZAC Research Institute, Concord Hospital, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B" last="Rowe">Dominic B. Rowe</name><affiliation><nlm:aff id="A100">Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Pamphlett, Roger" sort="Pamphlett, Roger" uniqKey="Pamphlett R" first="Roger" last="Pamphlett">Roger Pamphlett</name><affiliation><nlm:aff id="A102">Stacey MND Laboratory, Department of Pathology, University of Sydney, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Kiernan, Matthew C" sort="Kiernan, Matthew C" uniqKey="Kiernan M" first="Matthew C" last="Kiernan">Matthew C. Kiernan</name><affiliation><nlm:aff id="A103">Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Grosskreutz, Julian" sort="Grosskreutz, Julian" uniqKey="Grosskreutz J" first="Julian" last="Grosskreutz">Julian Grosskreutz</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Witte, Otto W" sort="Witte, Otto W" uniqKey="Witte O" first="Otto W" last="Witte">Otto W. Witte</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Ringer, Thomas" sort="Ringer, Thomas" uniqKey="Ringer T" first="Thomas" last="Ringer">Thomas Ringer</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Prell, Tino" sort="Prell, Tino" uniqKey="Prell T" first="Tino" last="Prell">Tino Prell</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Stubendorff, Beatrice" sort="Stubendorff, Beatrice" uniqKey="Stubendorff B" first="Beatrice" last="Stubendorff">Beatrice Stubendorff</name><affiliation><nlm:aff id="A104">Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Kurth, Ingo" sort="Kurth, Ingo" uniqKey="Kurth I" first="Ingo" last="Kurth">Ingo Kurth</name><affiliation><nlm:aff id="A105">Institute of Human Genetics, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Hubner, Christian A" sort="Hubner, Christian A" uniqKey="Hubner C" first="Christian A" last="Hübner">Christian A. Hübner</name><affiliation><nlm:aff id="A105">Institute of Human Genetics, Jena University Hospital, Jena, Germany</nlm:aff></affiliation></author><author><name sortKey="Leigh, P Nigel" sort="Leigh, P Nigel" uniqKey="Leigh P" first="P Nigel" last="Leigh">P Nigel Leigh</name><affiliation><nlm:aff id="A106">Department of Neurology, Brighton and Sussex Medical School Trafford Centre for Biomedical Research, University of Sussex, Falmer, UK</nlm:aff></affiliation></author><author><name sortKey="Casale, Federico" sort="Casale, Federico" uniqKey="Casale F" first="Federico" last="Casale">Federico Casale</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Chio, Adriano" sort="Chio, Adriano" uniqKey="Chio A" first="Adriano" last="Chio">Adriano Chio</name><affiliation><nlm:aff id="A91">‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A92">Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</nlm:aff></affiliation></author><author><name sortKey="Beghi, Ettore" sort="Beghi, Ettore" uniqKey="Beghi E" first="Ettore" last="Beghi">Ettore Beghi</name><affiliation><nlm:aff id="A107">Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Pupillo, Elisabetta" sort="Pupillo, Elisabetta" uniqKey="Pupillo E" first="Elisabetta" last="Pupillo">Elisabetta Pupillo</name><affiliation><nlm:aff id="A107">Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Tortelli, Rosanna" sort="Tortelli, Rosanna" uniqKey="Tortelli R" first="Rosanna" last="Tortelli">Rosanna Tortelli</name><affiliation><nlm:aff id="A93">Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Logroscino, Giancarlo" sort="Logroscino, Giancarlo" uniqKey="Logroscino G" first="Giancarlo" last="Logroscino">Giancarlo Logroscino</name><affiliation><nlm:aff id="A108">Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari ‘Aldo Moro’, Bari, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A109">Unit of Neurodegenerative Diseases, Department of Clinical Research in Neurology, University of Bari ‘Aldo Moro’ at Pia Fondazione Cardinale G. Panico, Tricase, Italy</nlm:aff></affiliation></author><author><name sortKey="Powell, John" sort="Powell, John" uniqKey="Powell J" first="John" last="Powell">John Powell</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Ludolph, Albert C" sort="Ludolph, Albert C" uniqKey="Ludolph A" first="Albert C" last="Ludolph">Albert C. Ludolph</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Weishaupt, Jochen H" sort="Weishaupt, Jochen H" uniqKey="Weishaupt J" first="Jochen H" last="Weishaupt">Jochen H. Weishaupt</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation></author><author><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name><affiliation><nlm:aff id="A83">Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A110">Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A111">Department of Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Damme, Philip" sort="Van Damme, Philip" uniqKey="Van Damme P" first="Philip" last="Van Damme">Philip Van Damme</name><affiliation><nlm:aff id="A83">Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A110">Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A111">Department of Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Franke, Lude" sort="Franke, Lude" uniqKey="Franke L" first="Lude" last="Franke">Lude Franke</name><affiliation><nlm:aff id="A5">Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Pers, Tune H" sort="Pers, Tune H" uniqKey="Pers T" first="Tune H" last="Pers">Tune H. Pers</name><affiliation><nlm:aff id="A112">Division of Endocrinology, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A113">Division of Genetics, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A114">Center for Basic Translational Obesity Research, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A115">Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A116">Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Brown, Robert H" sort="Brown, Robert H" uniqKey="Brown R" first="Robert H" last="Brown">Robert H. Brown</name><affiliation><nlm:aff id="A11">Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Glass, Jonathan D" sort="Glass, Jonathan D" uniqKey="Glass J" first="Jonathan D" last="Glass">Jonathan D. Glass</name><affiliation><nlm:aff id="A30">Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Landers, John E" sort="Landers, John E" uniqKey="Landers J" first="John E" last="Landers">John E. Landers</name><affiliation><nlm:aff id="A11">Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Hardiman, Orla" sort="Hardiman, Orla" uniqKey="Hardiman O" first="Orla" last="Hardiman">Orla Hardiman</name><affiliation><nlm:aff id="A12">Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Department of Neurology, Beaumont Hospital, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Andersen, Peter M" sort="Andersen, Peter M" uniqKey="Andersen P" first="Peter M" last="Andersen">Peter M. Andersen</name><affiliation><nlm:aff id="A60">Department of Neurology, Ulm University, Ulm, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A117">Department of Pharmacology and Clinical Neurosience, Umeå University, Umeå, Sweden</nlm:aff></affiliation></author><author><name sortKey="Corcia, Philippe" sort="Corcia, Philippe" uniqKey="Corcia P" first="Philippe" last="Corcia">Philippe Corcia</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="A118">Centre SLA, CHRU de Tours, Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="A119">Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Vourc, Patrick" sort="Vourc, Patrick" uniqKey="Vourc P" first="Patrick" last="Vourc">Patrick Vourc</name><affiliation><nlm:aff id="A56">INSERM U930, Université François Rabelais, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Silani, Vincenzo" sort="Silani, Vincenzo" uniqKey="Silani V" first="Vincenzo" last="Silani">Vincenzo Silani</name><affiliation><nlm:aff id="A9">Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Wray, Naomi R" sort="Wray, Naomi R" uniqKey="Wray N" first="Naomi R" last="Wray">Naomi R. Wray</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Visscher, Peter M" sort="Visscher, Peter M" uniqKey="Visscher P" first="Peter M" last="Visscher">Peter M. Visscher</name><affiliation><nlm:aff id="A8">Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A120">Diamantina Institute, University of Queensland Translational Research Institute, Brisbane, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="De Bakker, Paul I W" sort="De Bakker, Paul I W" uniqKey="De Bakker P" first="Paul I W" last="De Bakker">Paul I W. De Bakker</name><affiliation><nlm:aff id="A4">Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A121">Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Es, Michael A" sort="Van Es, Michael A" uniqKey="Van Es M" first="Michael A" last="Van Es">Michael A. Van Es</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Pasterkamp, R Jeroen" sort="Pasterkamp, R Jeroen" uniqKey="Pasterkamp R" first="R Jeroen" last="Pasterkamp">R Jeroen Pasterkamp</name><affiliation><nlm:aff id="A10">Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Lewis, Cathryn M" sort="Lewis, Cathryn M" uniqKey="Lewis C" first="Cathryn M" last="Lewis">Cathryn M. Lewis</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A122">Department of Medical and Molecular Genetics, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Breen, Gerome" sort="Breen, Gerome" uniqKey="Breen G" first="Gerome" last="Breen">Gerome Breen</name><affiliation><nlm:aff id="A6">MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A7">NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Al Chalabi, Ammar" sort="Al Chalabi, Ammar" uniqKey="Al Chalabi A" first="Ammar" last="Al-Chalabi">Ammar Al-Chalabi</name><affiliation><nlm:aff id="A2">Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Van Den Berg, Leonard H" sort="Van Den Berg, Leonard H" uniqKey="Van Den Berg L" first="Leonard H" last="Van Den Berg">Leonard H. Van Den Berg</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Veldink, Jan H" sort="Veldink, Jan H" uniqKey="Veldink J" first="Jan H" last="Veldink">Jan H. Veldink</name><affiliation><nlm:aff id="A1">Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (<italic>n</italic> = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified <italic>C21orf2</italic> as a gene associated with ALS risk. In addition, we identified <italic>MOBP</italic> and <italic>SCFD1</italic> as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">27455348</article-id><article-id pub-id-type="pmc">5556360</article-id><article-id pub-id-type="doi">10.1038/ng.3622</article-id><article-id pub-id-type="manuscript">NIHMS885010</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>van Rheenen</surname><given-names>Wouter</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN2" ref-type="author-notes">123</xref></contrib><contrib 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D</given-names></name><xref ref-type="aff" rid="A30">30</xref><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Landers</surname><given-names>John E</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Hardiman</surname><given-names>Orla</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Andersen</surname><given-names>Peter M</given-names></name><xref ref-type="aff" rid="A60">60</xref><xref ref-type="aff" rid="A117">117</xref></contrib><contrib contrib-type="author"><name><surname>Corcia</surname><given-names>Philippe</given-names></name><xref ref-type="aff" rid="A56">56</xref><xref ref-type="aff" rid="A118">118</xref><xref ref-type="aff" rid="A119">119</xref></contrib><contrib contrib-type="author"><name><surname>Vourc’h</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="A56">56</xref></contrib><contrib contrib-type="author"><name><surname>Silani</surname><given-names>Vincenzo</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Wray</surname><given-names>Naomi R</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Visscher</surname><given-names>Peter M</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A120">120</xref></contrib><contrib contrib-type="author"><name><surname>de Bakker</surname><given-names>Paul I W</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A121">121</xref></contrib><contrib contrib-type="author"><name><surname>van Es</surname><given-names>Michael A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Pasterkamp</surname><given-names>R Jeroen</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Lewis</surname><given-names>Cathryn M</given-names></name><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A122">122</xref></contrib><contrib contrib-type="author"><name><surname>Breen</surname><given-names>Gerome</given-names></name><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Al-Chalabi</surname><given-names>Ammar</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref rid="FN3" ref-type="author-notes">124</xref></contrib><contrib contrib-type="author"><name><surname>van den Berg</surname><given-names>Leonard H</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN3" ref-type="author-notes">124</xref></contrib><contrib contrib-type="author"><name><surname>Veldink</surname><given-names>Jan H</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN3" ref-type="author-notes">124</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</aff><aff id="A2"><label>2</label>Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London, UK</aff><aff id="A3"><label>3</label>Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland</aff><aff id="A4"><label>4</label>Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands</aff><aff id="A5"><label>5</label>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</aff><aff id="A6"><label>6</label>MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</aff><aff id="A7"><label>7</label>NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK</aff><aff id="A8"><label>8</label>Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia</aff><aff id="A9"><label>9</label>Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy</aff><aff id="A10"><label>10</label>Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands</aff><aff id="A11"><label>11</label>Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA</aff><aff id="A12"><label>12</label>Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland</aff><aff id="A13"><label>13</label>Department of Neurology, Beaumont Hospital, Dublin, Ireland</aff><aff id="A14"><label>14</label>Department of Pathophysiology and Tranplantation, ‘Dino Ferrari’ Center, Università degli Studi di Milano, Milan, Italy</aff><aff id="A15"><label>15</label>Department of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia</aff><aff id="A16"><label>16</label>Biomedical Research Institute BRIS, Ljubljana, Slovenia</aff><aff id="A17"><label>17</label>Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</aff><aff id="A18"><label>18</label>Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia</aff><aff id="A19"><label>19</label>Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia</aff><aff id="A20"><label>20</label>Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France</aff><aff id="A21"><label>21</label>Centre de Référence Maladies Rares SLA Ile de France, Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A22"><label>22</label>GRC-UPMC SLA et Maladies du Motoneurone, Paris, France</aff><aff id="A23"><label>23</label>Ramsay Generale de Santé, Hôpital Peupliers, Paris, France</aff><aff id="A24"><label>24</label>Réseau SLA Ile de France, Paris, France</aff><aff id="A25"><label>25</label>Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal</aff><aff id="A26"><label>26</label>Department of Neurosciences, Hospital de Santa Maria–CHLN, Lisbon, Portugal</aff><aff id="A27"><label>27</label>Department of Neurology, Hospital San Rafael, Madrid, Spain</aff><aff id="A28"><label>28</label>Neurology Department, Hospital de la Santa Creu i Sant Pau de Barcelona, Autonomous University of Barcelona, Barcelona, Spain</aff><aff id="A29"><label>29</label>Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain</aff><aff id="A30"><label>30</label>Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA</aff><aff id="A31"><label>31</label>Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA</aff><aff id="A32"><label>32</label>Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK</aff><aff id="A33"><label>33</label>Centre for Neuroregeneration and Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK</aff><aff id="A34"><label>34</label>Faculty of Medicine, University of Southampton, Southampton, UK</aff><aff id="A35"><label>35</label>Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK</aff><aff id="A36"><label>36</label>Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK</aff><aff id="A37"><label>37</label>Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK</aff><aff id="A38"><label>38</label>Reta Lila Weston Institute, Institute of Neurology, University College London, London, UK</aff><aff id="A39"><label>39</label>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK</aff><aff id="A40"><label>40</label>Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, London, UK</aff><aff id="A41"><label>41</label>North-East London and Essex Regional Motor Neuron Disease Care Centre, London, UK</aff><aff id="A42"><label>42</label>Department of Neurology, Hannover Medical School, Hannover, Germany</aff><aff id="A43"><label>43</label>Department of Neurology, Otto von Güricke University Magdeburg, Magdeburg, Germany</aff><aff id="A44"><label>44</label>Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany</aff><aff id="A45"><label>45</label>Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany</aff><aff id="A46"><label>46</label>Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands</aff><aff id="A47"><label>47</label>Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA</aff><aff id="A48"><label>48</label>Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA</aff><aff id="A49"><label>49</label>Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA</aff><aff id="A50"><label>50</label>Department of Neurology, University of California, San Francisco, San Francisco, California, USA</aff><aff id="A51"><label>51</label>Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><aff id="A52"><label>52</label>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><aff id="A53"><label>53</label>Neurodegeneration Research Laboratory, Boğaziçi University, Istanbul, Turkey</aff><aff id="A54"><label>54</label>Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey</aff><aff id="A55"><label>55</label>Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany</aff><aff id="A56"><label>56</label>INSERM U930, Université François Rabelais, Tours, France</aff><aff id="A57"><label>57</label>AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A58"><label>58</label>UPMC, Pharmacologie, Paris VI, Paris, France</aff><aff id="A59"><label>59</label>BESPIM, CHU de Nîmes, Nîmes, France</aff><aff id="A60"><label>60</label>Department of Neurology, Ulm University, Ulm, Germany</aff><aff id="A61"><label>61</label>INSERM U1127, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A62"><label>62</label>CNRS UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A63"><label>63</label>Sorbonne Universités, UPMC Paris 06, UMRS 1127, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A64"><label>64</label>Institut du Cerveau et de la Moelle Epinière, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A65"><label>65</label>AP-HP, Département de Génétique, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A66"><label>66</label>Genethon, CNRS UMR 8587, Evry, France</aff><aff id="A67"><label>67</label>Department of Medical Genetics, Institut du Cerveau et de la Moelle Epinière, Hôptial Pitié-Salpêtrière, Paris, France</aff><aff id="A68"><label>68</label>Department of Neurogenetics, Institute of Neurology, University College London, London, UK</aff><aff id="A69"><label>69</label>PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany</aff><aff id="A70"><label>70</label>Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany</aff><aff id="A71"><label>71</label>Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Faculty of Medicine Mannheim, University of Heidelberg, Heidelberg, Germany</aff><aff id="A72"><label>72</label>Institute of Human Genetics, University of Bonn, Bonn, Germany</aff><aff id="A73"><label>73</label>Department of Genomics, Life and Brain Center, Bonn, Germany</aff><aff id="A74"><label>74</label>Division of Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland</aff><aff id="A75"><label>75</label>Department of Biomedicine, University of Basel, Basel, Switzerland</aff><aff id="A76"><label>76</label>Institute of Neuroscience and Medicine INM-1, Research Center Juelich, Juelich, Germany</aff><aff id="A77"><label>77</label>University of Lille, INSERM, CHU de Lille, Institut Pasteur de Lille, U1167-RID-AGE Risk Factor and Molecular Determinants of Aging Diseases, Lille, France</aff><aff id="A78"><label>78</label>Bordeaux University, ISPED, Centre INSERM U1219–Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France</aff><aff id="A79"><label>79</label>Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</aff><aff id="A80"><label>80</label>Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands</aff><aff id="A81"><label>81</label>Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA</aff><aff id="A82"><label>82</label>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands</aff><aff id="A83"><label>83</label>Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven–University of Leuven, Leuven, Belgium</aff><aff id="A84"><label>84</label>Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland</aff><aff id="A85"><label>85</label>Laboratory of Experimental Neurobiology, IRCCS ‘C. Mondino’ National Institute of Neurology Foundation, Pavia, Italy</aff><aff id="A86"><label>86</label>Neurologic Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy</aff><aff id="A87"><label>87</label>Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Università del Piemonte Orientale, Novara, Italy</aff><aff id="A88"><label>88</label>Department of Neurosciences, University of Padova, Padova, Italy</aff><aff id="A89"><label>89</label>Department of Neurology, Università del Piemonte Orientale, Novara, Italy</aff><aff id="A90"><label>90</label>Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy</aff><aff id="A91"><label>91</label>‘Rita Levi Montalcini’ Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy</aff><aff id="A92"><label>92</label>Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy</aff><aff id="A93"><label>93</label>Department of Clinical Research in Neurology, University of Bari ‘A. Moro’ at Pia Fondazione ‘Card. G. Panico’, Tricase, Italy</aff><aff id="A94"><label>94</label>NEMO Clinical Center, Serena Onlus Foundation, Niguarda Ca’ Granda Hostipal, Milan, Italy</aff><aff id="A95"><label>95</label>Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca’ Granda Hospital, Milan, Italy</aff><aff id="A96"><label>96</label>Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy</aff><aff id="A97"><label>97</label>Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy</aff><aff id="A98"><label>98</label>Project MinE Foundation, Rotterdam, the Netherlands</aff><aff id="A100"><label>100</label>Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia</aff><aff id="A101"><label>101</label>University of Sydney, ANZAC Research Institute, Concord Hospital, Sydney, New South Wales, Australia</aff><aff id="A102"><label>102</label>Stacey MND Laboratory, Department of Pathology, University of Sydney, Sydney, New South Wales, Australia</aff><aff id="A103"><label>103</label>Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia</aff><aff id="A104"><label>104</label>Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany</aff><aff id="A105"><label>105</label>Institute of Human Genetics, Jena University Hospital, Jena, Germany</aff><aff id="A106"><label>106</label>Department of Neurology, Brighton and Sussex Medical School Trafford Centre for Biomedical Research, University of Sussex, Falmer, UK</aff><aff id="A107"><label>107</label>Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy</aff><aff id="A108"><label>108</label>Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari ‘Aldo Moro’, Bari, Italy</aff><aff id="A109"><label>109</label>Unit of Neurodegenerative Diseases, Department of Clinical Research in Neurology, University of Bari ‘Aldo Moro’ at Pia Fondazione Cardinale G. Panico, Tricase, Italy</aff><aff id="A110"><label>110</label>Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium</aff><aff id="A111"><label>111</label>Department of Neurology, University Hospitals Leuven, Leuven, Belgium</aff><aff id="A112"><label>112</label>Division of Endocrinology, Boston Children’s Hospital, Boston, Massachusetts, USA</aff><aff id="A113"><label>113</label>Division of Genetics, Boston Children’s Hospital, Boston, Massachusetts, USA</aff><aff id="A114"><label>114</label>Center for Basic Translational Obesity Research, Boston Children’s Hospital, Boston, Massachusetts, USA</aff><aff id="A115"><label>115</label>Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA</aff><aff id="A116"><label>116</label>Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA</aff><aff id="A117"><label>117</label>Department of Pharmacology and Clinical Neurosience, Umeå University, Umeå, Sweden</aff><aff id="A118"><label>118</label>Centre SLA, CHRU de Tours, Tours, France</aff><aff id="A119"><label>119</label>Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France</aff><aff id="A120"><label>120</label>Diamantina Institute, University of Queensland Translational Research Institute, Brisbane, Queensland, Australia</aff><aff id="A121"><label>121</label>Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands</aff><aff id="A122"><label>122</label>Department of Medical and Molecular Genetics, King’s College London, London, UK</aff><author-notes><corresp id="FN1">Correspondence should be addressed to A.A.-C. (<email>ammar.al-chalabi@kcl.ac.uk</email>) or J.H.V. (<email>j.h.veldink@umcutrecht.nl</email>)</corresp><fn id="FN2" fn-type="equal"><label>123</label><p>These authors contributed equally to this work.</p></fn><fn id="FN3"><label>124</label><p>These authors jointly directed this work.</p></fn><fn id="FN4"><label>99</label><p>A list of members appears in the <xref ref-type="supplementary-material" rid="SD1">Supplementary Note</xref>.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>23</day><month>6</month><year>2017</year></pub-date><pub-date pub-type="epub"><day>25</day><month>7</month><year>2016</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>8</month><year>2017</year></pub-date><volume>48</volume><issue>9</issue><fpage>1043</fpage><lpage>1048</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.3622</pmc-comment>
<permissions><license license-type="permissions-link"><license-p>Reprints and permissions information is available online at <ext-link ext-link-type="uri" xlink:href="http://www.nature.com/reprints/index.html">http://www.nature.com/reprints/index.html</ext-link>.</license-p></license></permissions><abstract><p id="P1">To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (<italic>n</italic> = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified <italic>C21orf2</italic> as a gene associated with ALS risk. In addition, we identified <italic>MOBP</italic> and <italic>SCFD1</italic> as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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