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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Frontotemporal dementia and its subtypes: a genome-wide association study</title><author><name sortKey="Ferrari, Raffaele" sort="Ferrari, Raffaele" uniqKey="Ferrari R" first="Raffaele" last="Ferrari">Raffaele Ferrari</name></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A" last="Nalls">Michael A. Nalls</name></author><author><name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D" last="Rohrer">Jonathan D. Rohrer</name></author><author><name sortKey="Ramasamy, Adaikalavan" sort="Ramasamy, Adaikalavan" uniqKey="Ramasamy A" first="Adaikalavan" last="Ramasamy">Adaikalavan Ramasamy</name></author><author><name sortKey="Kwok, John B J" sort="Kwok, John B J" uniqKey="Kwok J" first="John B J" last="Kwok">John B J. Kwok</name></author><author><name sortKey="Dobson Stone, Carol" sort="Dobson Stone, Carol" uniqKey="Dobson Stone C" first="Carol" last="Dobson-Stone">Carol Dobson-Stone</name></author><author><name sortKey="Brooks, William S" sort="Brooks, William S" uniqKey="Brooks W" first="William S" last="Brooks">William S. Brooks</name></author><author><name sortKey="Schofield, Peter R" sort="Schofield, Peter R" uniqKey="Schofield P" first="Peter R" last="Schofield">Peter R. Schofield</name></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M" last="Halliday">Glenda M. Halliday</name></author><author><name sortKey="Hodges, John R" sort="Hodges, John R" uniqKey="Hodges J" first="John R" last="Hodges">John R. Hodges</name></author><author><name sortKey="Piguet, Olivier" sort="Piguet, Olivier" uniqKey="Piguet O" first="Olivier" last="Piguet">Olivier Piguet</name></author><author><name sortKey="Bartley, Lauren" sort="Bartley, Lauren" uniqKey="Bartley L" first="Lauren" last="Bartley">Lauren Bartley</name></author><author><name sortKey="Thompson, Elizabeth" sort="Thompson, Elizabeth" uniqKey="Thompson E" first="Elizabeth" last="Thompson">Elizabeth Thompson</name></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name></author><author><name sortKey="Hernandez, Isabel" sort="Hernandez, Isabel" uniqKey="Hernandez I" first="Isabel" last="Hernández">Isabel Hernández</name></author><author><name sortKey="Ruiz, Agustin" sort="Ruiz, Agustin" uniqKey="Ruiz A" first="Agustín" last="Ruiz">Agustín Ruiz</name></author><author><name sortKey="Boada, Merce" sort="Boada, Merce" uniqKey="Boada M" first="Mercè" last="Boada">Mercè Boada</name></author><author><name sortKey="Borroni, Barbara" sort="Borroni, Barbara" uniqKey="Borroni B" first="Barbara" last="Borroni">Barbara Borroni</name></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name></author><author><name sortKey="Cruchaga, Carlos" sort="Cruchaga, Carlos" uniqKey="Cruchaga C" first="Carlos" last="Cruchaga">Carlos Cruchaga</name></author><author><name sortKey="Cairns, Nigel J" sort="Cairns, Nigel J" uniqKey="Cairns N" first="Nigel J" last="Cairns">Nigel J. Cairns</name></author><author><name sortKey="Benussi, Luisa" sort="Benussi, Luisa" uniqKey="Benussi L" first="Luisa" last="Benussi">Luisa Benussi</name></author><author><name sortKey="Binetti, Giuliano" sort="Binetti, Giuliano" uniqKey="Binetti G" first="Giuliano" last="Binetti">Giuliano Binetti</name></author><author><name sortKey="Ghidoni, Roberta" sort="Ghidoni, Roberta" uniqKey="Ghidoni R" first="Roberta" last="Ghidoni">Roberta Ghidoni</name></author><author><name sortKey="Forloni, Gianluigi" sort="Forloni, Gianluigi" uniqKey="Forloni G" first="Gianluigi" last="Forloni">Gianluigi Forloni</name></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name></author><author><name sortKey="Fenoglio, Chiara" sort="Fenoglio, Chiara" uniqKey="Fenoglio C" first="Chiara" last="Fenoglio">Chiara Fenoglio</name></author><author><name sortKey="Serpente, Maria" sort="Serpente, Maria" uniqKey="Serpente M" first="Maria" last="Serpente">Maria Serpente</name></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name></author><author><name sortKey="Clarim N, Jordi" sort="Clarim N, Jordi" uniqKey="Clarim N J" first="Jordi" last="Clarim N">Jordi Clarim N</name></author><author><name sortKey="Lle, Alberto" sort="Lle, Alberto" uniqKey="Lle A" first="Alberto" last="Lle">Alberto Lle</name></author><author><name sortKey="Blesa, Rafael" sort="Blesa, Rafael" uniqKey="Blesa R" first="Rafael" last="Blesa">Rafael Blesa</name></author><author><name sortKey="Waldo, Maria Landqvist" sort="Waldo, Maria Landqvist" uniqKey="Waldo M" first="Maria Landqvist" last="Waldö">Maria Landqvist Waldö</name></author><author><name sortKey="Nilsson, Karin" sort="Nilsson, Karin" uniqKey="Nilsson K" first="Karin" last="Nilsson">Karin Nilsson</name></author><author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name></author><author><name sortKey="Mackenzie, Ian R A" sort="Mackenzie, Ian R A" uniqKey="Mackenzie I" first="Ian R A" last="Mackenzie">Ian R A. Mackenzie</name></author><author><name sortKey="Hsiung, Ging Yuek R" sort="Hsiung, Ging Yuek R" uniqKey="Hsiung G" first="Ging-Yuek R" last="Hsiung">Ging-Yuek R. Hsiung</name></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M A" last="Mann">David M A. Mann</name></author><author><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name></author><author><name sortKey="Morris, Christopher M" sort="Morris, Christopher M" uniqKey="Morris C" first="Christopher M" last="Morris">Christopher M. Morris</name></author><author><name sortKey="Attems, Johannes" sort="Attems, Johannes" uniqKey="Attems J" first="Johannes" last="Attems">Johannes Attems</name></author><author><name sortKey="Griffiths, Timothy D" sort="Griffiths, Timothy D" uniqKey="Griffiths T" first="Timothy D" last="Griffiths">Timothy D. Griffiths</name></author><author><name sortKey="Mckeith, Ian G" sort="Mckeith, Ian G" uniqKey="Mckeith I" first="Ian G" last="Mckeith">Ian G. Mckeith</name></author><author><name sortKey="Thomas, Alan J" sort="Thomas, Alan J" uniqKey="Thomas A" first="Alan J" last="Thomas">Alan J. Thomas</name></author><author><name sortKey="Pietrini, P" sort="Pietrini, P" uniqKey="Pietrini P" first="P" last="Pietrini">P. Pietrini</name></author><author><name sortKey="Huey, Edward D" sort="Huey, Edward D" uniqKey="Huey E" first="Edward D" last="Huey">Edward D. Huey</name></author><author><name sortKey="Wassermann, Eric M" sort="Wassermann, Eric M" uniqKey="Wassermann E" first="Eric M" last="Wassermann">Eric M. Wassermann</name></author><author><name sortKey="Baborie, Atik" sort="Baborie, Atik" uniqKey="Baborie A" first="Atik" last="Baborie">Atik Baborie</name></author><author><name sortKey="Jaros, Evelyn" sort="Jaros, Evelyn" uniqKey="Jaros E" first="Evelyn" last="Jaros">Evelyn Jaros</name></author><author><name sortKey="Tierney, Michael C" sort="Tierney, Michael C" uniqKey="Tierney M" first="Michael C" last="Tierney">Michael C. Tierney</name></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></author><author><name sortKey="Razquin, Cristina" sort="Razquin, Cristina" uniqKey="Razquin C" first="Cristina" last="Razquin">Cristina Razquin</name></author><author><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name></author><author><name sortKey="Alonso, Elena" sort="Alonso, Elena" uniqKey="Alonso E" first="Elena" last="Alonso">Elena Alonso</name></author><author><name sortKey="Perneczky, Robert" sort="Perneczky, Robert" uniqKey="Perneczky R" first="Robert" last="Perneczky">Robert Perneczky</name></author><author><name sortKey="Diehl Schmid, Janine" sort="Diehl Schmid, Janine" uniqKey="Diehl Schmid J" first="Janine" last="Diehl-Schmid">Janine Diehl-Schmid</name></author><author><name sortKey="Alexopoulos, Panagiotis" sort="Alexopoulos, Panagiotis" uniqKey="Alexopoulos P" first="Panagiotis" last="Alexopoulos">Panagiotis Alexopoulos</name></author><author><name sortKey="Kurz, Alexander" sort="Kurz, Alexander" uniqKey="Kurz A" first="Alexander" last="Kurz">Alexander Kurz</name></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name></author><author><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author><author><name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St" last="George-Hyslop">Peter St George-Hyslop</name></author><author><name sortKey="Rossi, Giacomina" sort="Rossi, Giacomina" uniqKey="Rossi G" first="Giacomina" last="Rossi">Giacomina Rossi</name></author><author><name sortKey="Tagliavini, Fabrizio" sort="Tagliavini, Fabrizio" uniqKey="Tagliavini F" first="Fabrizio" last="Tagliavini">Fabrizio Tagliavini</name></author><author><name sortKey="Giaccone, Giorgio" sort="Giaccone, Giorgio" uniqKey="Giaccone G" first="Giorgio" last="Giaccone">Giorgio Giaccone</name></author><author><name sortKey="Rowe, James B" sort="Rowe, James B" uniqKey="Rowe J" first="James B" last="Rowe">James B. Rowe</name></author><author><name sortKey="Schlachetzki, J C M" sort="Schlachetzki, J C M" uniqKey="Schlachetzki J" first="J C M" last="Schlachetzki">J C M. Schlachetzki</name></author><author><name sortKey="Uphill, James" sort="Uphill, James" uniqKey="Uphill J" first="James" last="Uphill">James Uphill</name></author><author><name sortKey="Collinge, John" sort="Collinge, John" uniqKey="Collinge J" first="John" last="Collinge">John Collinge</name></author><author><name sortKey="Mead, S" sort="Mead, S" uniqKey="Mead S" first="S" last="Mead">S. Mead</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></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></author><author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name></author><author><name sortKey="Trojanowsk, John Q" sort="Trojanowsk, John Q" uniqKey="Trojanowsk J" first="John Q" last="Trojanowsk">John Q. Trojanowsk</name></author><author><name sortKey="Van Der Zee, Julie" sort="Van Der Zee, Julie" uniqKey="Van Der Zee J" first="Julie" last="Van Der Zee">Julie Van Der Zee</name></author><author><name sortKey="Deschamps, William" sort="Deschamps, William" uniqKey="Deschamps W" first="William" last="Deschamps">William Deschamps</name></author><author><name sortKey="Van Langenhove, Tim" sort="Van Langenhove, Tim" uniqKey="Van Langenhove T" first="Tim" last="Van Langenhove">Tim Van Langenhove</name></author><author><name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></author><author><name sortKey="Cappa, Stefano F" sort="Cappa, Stefano F" uniqKey="Cappa S" first="Stefano F" last="Cappa">Stefano F. Cappa</name></author><author><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name></author><author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name></author><author><name sortKey="Golfier, Veronique" sort="Golfier, Veronique" uniqKey="Golfier V" first="Véronique" last="Golfier">Véronique Golfier</name></author><author><name sortKey="Vercelletto, Martine" sort="Vercelletto, Martine" uniqKey="Vercelletto M" first="Martine" last="Vercelletto">Martine Vercelletto</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Nacmias, Benedetta" sort="Nacmias, Benedetta" uniqKey="Nacmias B" first="Benedetta" last="Nacmias">Benedetta Nacmias</name></author><author><name sortKey="Sorbi, Sandro" sort="Sorbi, Sandro" uniqKey="Sorbi S" first="Sandro" last="Sorbi">Sandro Sorbi</name></author><author><name sortKey="Bagnoli, Silvia" sort="Bagnoli, Silvia" uniqKey="Bagnoli S" first="Silvia" last="Bagnoli">Silvia Bagnoli</name></author><author><name sortKey="Piaceri, Irene" sort="Piaceri, Irene" uniqKey="Piaceri I" first="Irene" last="Piaceri">Irene Piaceri</name></author><author><name sortKey="Nielsen, J Rgen E" sort="Nielsen, J Rgen E" uniqKey="Nielsen J" first="J Rgen E" last="Nielsen">J Rgen E. Nielsen</name></author><author><name sortKey="Hjermind, Lena E" sort="Hjermind, Lena E" uniqKey="Hjermind L" first="Lena E" last="Hjermind">Lena E. Hjermind</name></author><author><name sortKey="Riemenschneider, Matthias" sort="Riemenschneider, Matthias" uniqKey="Riemenschneider M" first="Matthias" last="Riemenschneider">Matthias Riemenschneider</name></author><author><name sortKey="Mayhaus, Manuel" sort="Mayhaus, Manuel" uniqKey="Mayhaus M" first="Manuel" last="Mayhaus">Manuel Mayhaus</name></author><author><name sortKey="Ibach, Bernd" sort="Ibach, Bernd" uniqKey="Ibach B" first="Bernd" last="Ibach">Bernd Ibach</name></author><author><name sortKey="Gasparoni, Gilles" sort="Gasparoni, Gilles" uniqKey="Gasparoni G" first="Gilles" last="Gasparoni">Gilles Gasparoni</name></author><author><name sortKey="Pichler, Sabrina" sort="Pichler, Sabrina" uniqKey="Pichler S" first="Sabrina" last="Pichler">Sabrina Pichler</name></author><author><name sortKey="Gu, Wei" sort="Gu, Wei" uniqKey="Gu W" first="Wei" last="Gu">Wei Gu</name></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N" last="Rossor">Martin N. Rossor</name></author><author><name sortKey="Fox, Nick C" sort="Fox, Nick C" uniqKey="Fox N" first="Nick C" last="Fox">Nick C. Fox</name></author><author><name sortKey="Warren, Jason D" sort="Warren, Jason D" uniqKey="Warren J" first="Jason D" last="Warren">Jason D. Warren</name></author><author><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name></author><author><name sortKey="Rizzu, Patrizia" sort="Rizzu, Patrizia" uniqKey="Rizzu P" first="Patrizia" last="Rizzu">Patrizia Rizzu</name></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name></author><author><name sortKey="Snowden, Julie S" sort="Snowden, Julie S" uniqKey="Snowden J" first="Julie S" last="Snowden">Julie S. Snowden</name></author><author><name sortKey="Rollinson, Sara" sort="Rollinson, Sara" uniqKey="Rollinson S" first="Sara" last="Rollinson">Sara Rollinson</name></author><author><name sortKey="Richardson, Anna" sort="Richardson, Anna" uniqKey="Richardson A" first="Anna" last="Richardson">Anna Richardson</name></author><author><name sortKey="Gerhard, Alexander" sort="Gerhard, Alexander" uniqKey="Gerhard A" first="Alexander" last="Gerhard">Alexander Gerhard</name></author><author><name sortKey="Bruni, Amalia C" sort="Bruni, Amalia C" uniqKey="Bruni A" first="Amalia C" last="Bruni">Amalia C. Bruni</name></author><author><name sortKey="Maletta, Raffaele" sort="Maletta, Raffaele" uniqKey="Maletta R" first="Raffaele" last="Maletta">Raffaele Maletta</name></author><author><name sortKey="Frangipane, Francesca" sort="Frangipane, Francesca" uniqKey="Frangipane F" first="Francesca" last="Frangipane">Francesca Frangipane</name></author><author><name sortKey="Cupidi, Chiara" sort="Cupidi, Chiara" uniqKey="Cupidi C" first="Chiara" last="Cupidi">Chiara Cupidi</name></author><author><name sortKey="Bernardi, Livia" sort="Bernardi, Livia" uniqKey="Bernardi L" first="Livia" last="Bernardi">Livia Bernardi</name></author><author><name sortKey="Anfossi, Maria" sort="Anfossi, Maria" uniqKey="Anfossi M" first="Maria" last="Anfossi">Maria Anfossi</name></author><author><name sortKey="Gallo, Maura" sort="Gallo, Maura" uniqKey="Gallo M" first="Maura" last="Gallo">Maura Gallo</name></author><author><name sortKey="Conidi, Maria Elena" sort="Conidi, Maria Elena" uniqKey="Conidi M" first="Maria Elena" last="Conidi">Maria Elena Conidi</name></author><author><name sortKey="Smirne, Nicoletta" sort="Smirne, Nicoletta" uniqKey="Smirne N" first="Nicoletta" last="Smirne">Nicoletta Smirne</name></author><author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name></author><author><name sortKey="Baker, Matt" sort="Baker, Matt" uniqKey="Baker M" first="Matt" last="Baker">Matt Baker</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R" last="Graff-Radford">Neill R. Graff-Radford</name></author><author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C" last="Petersen">Ronald C. Petersen</name></author><author><name sortKey="Knopman, David" sort="Knopman, David" uniqKey="Knopman D" first="David" last="Knopman">David Knopman</name></author><author><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A" last="Josephs">Keith A. Josephs</name></author><author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F" last="Boeve">Bradley F. Boeve</name></author><author><name sortKey="Parisi, Joseph E" sort="Parisi, Joseph E" uniqKey="Parisi J" first="Joseph E" last="Parisi">Joseph E. Parisi</name></author><author><name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W" last="Seeley">William W. Seeley</name></author><author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L" last="Miller">Bruce L. Miller</name></author><author><name sortKey="Karydas, Anna M" sort="Karydas, Anna M" uniqKey="Karydas A" first="Anna M" last="Karydas">Anna M. Karydas</name></author><author><name sortKey="Rosen, Howard" sort="Rosen, Howard" uniqKey="Rosen H" first="Howard" last="Rosen">Howard Rosen</name></author><author><name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C" last="Van Swieten">John C. Van Swieten</name></author><author><name sortKey="Dopper, Elise G P" sort="Dopper, Elise G P" uniqKey="Dopper E" first="Elise G P" last="Dopper">Elise G P. Dopper</name></author><author><name sortKey="Seelaar, Harro" sort="Seelaar, Harro" uniqKey="Seelaar H" first="Harro" last="Seelaar">Harro Seelaar</name></author><author><name sortKey="Pijnenburg, Yolande Al" sort="Pijnenburg, Yolande Al" uniqKey="Pijnenburg Y" first="Yolande Al" last="Pijnenburg">Yolande Al Pijnenburg</name></author><author><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name></author><author><name sortKey="Logroscino, Giancarlo" sort="Logroscino, Giancarlo" uniqKey="Logroscino G" first="Giancarlo" last="Logroscino">Giancarlo Logroscino</name></author><author><name sortKey="Capozzo, Rosa" sort="Capozzo, Rosa" uniqKey="Capozzo R" first="Rosa" last="Capozzo">Rosa Capozzo</name></author><author><name sortKey="Novelli, Valeria" sort="Novelli, Valeria" uniqKey="Novelli V" first="Valeria" last="Novelli">Valeria Novelli</name></author><author><name sortKey="Puca, Annibale A" sort="Puca, Annibale A" uniqKey="Puca A" first="Annibale A" last="Puca">Annibale A. Puca</name></author><author><name sortKey="Franceschi, M" sort="Franceschi, M" uniqKey="Franceschi M" first="M" last="Franceschi">M. Franceschi</name></author><author><name sortKey="Postiglione, Alfredo" sort="Postiglione, Alfredo" uniqKey="Postiglione A" first="Alfredo" last="Postiglione">Alfredo Postiglione</name></author><author><name sortKey="Milan, Graziella" sort="Milan, Graziella" uniqKey="Milan G" first="Graziella" last="Milan">Graziella Milan</name></author><author><name sortKey="Sorrentino, Paolo" sort="Sorrentino, Paolo" uniqKey="Sorrentino P" first="Paolo" last="Sorrentino">Paolo Sorrentino</name></author><author><name sortKey="Kristiansen, Mark" sort="Kristiansen, Mark" uniqKey="Kristiansen M" first="Mark" last="Kristiansen">Mark Kristiansen</name></author><author><name sortKey="Chiang, Huei Hsin" sort="Chiang, Huei Hsin" uniqKey="Chiang H" first="Huei-Hsin" last="Chiang">Huei-Hsin Chiang</name></author><author><name sortKey="Graff, Caroline" sort="Graff, Caroline" uniqKey="Graff C" first="Caroline" last="Graff">Caroline Graff</name></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name></author><author><name sortKey="Rollin, Adeline" sort="Rollin, Adeline" uniqKey="Rollin A" first="Adeline" last="Rollin">Adeline Rollin</name></author><author><name sortKey="Deramecourt, Vincent" sort="Deramecourt, Vincent" uniqKey="Deramecourt V" first="Vincent" last="Deramecourt">Vincent Deramecourt</name></author><author><name sortKey="Lebert, Florence" sort="Lebert, Florence" uniqKey="Lebert F" first="Florence" last="Lebert">Florence Lebert</name></author><author><name sortKey="Kapogiannis, Dimitrios" sort="Kapogiannis, Dimitrios" uniqKey="Kapogiannis D" first="Dimitrios" last="Kapogiannis">Dimitrios Kapogiannis</name></author><author><name sortKey="Ferrucci, Luigi" sort="Ferrucci, Luigi" uniqKey="Ferrucci L" first="Luigi" last="Ferrucci">Luigi Ferrucci</name></author><author><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24943344</idno><idno type="pmc">4112126</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126</idno><idno type="RBID">PMC:4112126</idno><idno type="doi">10.1016/S1474-4422(14)70065-1</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001E07</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E07</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Frontotemporal dementia and its subtypes: a genome-wide association study</title><author><name sortKey="Ferrari, Raffaele" sort="Ferrari, Raffaele" uniqKey="Ferrari R" first="Raffaele" last="Ferrari">Raffaele Ferrari</name></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A" last="Nalls">Michael A. Nalls</name></author><author><name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D" last="Rohrer">Jonathan D. Rohrer</name></author><author><name sortKey="Ramasamy, Adaikalavan" sort="Ramasamy, Adaikalavan" uniqKey="Ramasamy A" first="Adaikalavan" last="Ramasamy">Adaikalavan Ramasamy</name></author><author><name sortKey="Kwok, John B J" sort="Kwok, John B J" uniqKey="Kwok J" first="John B J" last="Kwok">John B J. Kwok</name></author><author><name sortKey="Dobson Stone, Carol" sort="Dobson Stone, Carol" uniqKey="Dobson Stone C" first="Carol" last="Dobson-Stone">Carol Dobson-Stone</name></author><author><name sortKey="Brooks, William S" sort="Brooks, William S" uniqKey="Brooks W" first="William S" last="Brooks">William S. Brooks</name></author><author><name sortKey="Schofield, Peter R" sort="Schofield, Peter R" uniqKey="Schofield P" first="Peter R" last="Schofield">Peter R. Schofield</name></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M" last="Halliday">Glenda M. Halliday</name></author><author><name sortKey="Hodges, John R" sort="Hodges, John R" uniqKey="Hodges J" first="John R" last="Hodges">John R. Hodges</name></author><author><name sortKey="Piguet, Olivier" sort="Piguet, Olivier" uniqKey="Piguet O" first="Olivier" last="Piguet">Olivier Piguet</name></author><author><name sortKey="Bartley, Lauren" sort="Bartley, Lauren" uniqKey="Bartley L" first="Lauren" last="Bartley">Lauren Bartley</name></author><author><name sortKey="Thompson, Elizabeth" sort="Thompson, Elizabeth" uniqKey="Thompson E" first="Elizabeth" last="Thompson">Elizabeth Thompson</name></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name></author><author><name sortKey="Hernandez, Isabel" sort="Hernandez, Isabel" uniqKey="Hernandez I" first="Isabel" last="Hernández">Isabel Hernández</name></author><author><name sortKey="Ruiz, Agustin" sort="Ruiz, Agustin" uniqKey="Ruiz A" first="Agustín" last="Ruiz">Agustín Ruiz</name></author><author><name sortKey="Boada, Merce" sort="Boada, Merce" uniqKey="Boada M" first="Mercè" last="Boada">Mercè Boada</name></author><author><name sortKey="Borroni, Barbara" sort="Borroni, Barbara" uniqKey="Borroni B" first="Barbara" last="Borroni">Barbara Borroni</name></author><author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name></author><author><name sortKey="Cruchaga, Carlos" sort="Cruchaga, Carlos" uniqKey="Cruchaga C" first="Carlos" last="Cruchaga">Carlos Cruchaga</name></author><author><name sortKey="Cairns, Nigel J" sort="Cairns, Nigel J" uniqKey="Cairns N" first="Nigel J" last="Cairns">Nigel J. Cairns</name></author><author><name sortKey="Benussi, Luisa" sort="Benussi, Luisa" uniqKey="Benussi L" first="Luisa" last="Benussi">Luisa Benussi</name></author><author><name sortKey="Binetti, Giuliano" sort="Binetti, Giuliano" uniqKey="Binetti G" first="Giuliano" last="Binetti">Giuliano Binetti</name></author><author><name sortKey="Ghidoni, Roberta" sort="Ghidoni, Roberta" uniqKey="Ghidoni R" first="Roberta" last="Ghidoni">Roberta Ghidoni</name></author><author><name sortKey="Forloni, Gianluigi" sort="Forloni, Gianluigi" uniqKey="Forloni G" first="Gianluigi" last="Forloni">Gianluigi Forloni</name></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name></author><author><name sortKey="Fenoglio, Chiara" sort="Fenoglio, Chiara" uniqKey="Fenoglio C" first="Chiara" last="Fenoglio">Chiara Fenoglio</name></author><author><name sortKey="Serpente, Maria" sort="Serpente, Maria" uniqKey="Serpente M" first="Maria" last="Serpente">Maria Serpente</name></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name></author><author><name sortKey="Clarim N, Jordi" sort="Clarim N, Jordi" uniqKey="Clarim N J" first="Jordi" last="Clarim N">Jordi Clarim N</name></author><author><name sortKey="Lle, Alberto" sort="Lle, Alberto" uniqKey="Lle A" first="Alberto" last="Lle">Alberto Lle</name></author><author><name sortKey="Blesa, Rafael" sort="Blesa, Rafael" uniqKey="Blesa R" first="Rafael" last="Blesa">Rafael Blesa</name></author><author><name sortKey="Waldo, Maria Landqvist" sort="Waldo, Maria Landqvist" uniqKey="Waldo M" first="Maria Landqvist" last="Waldö">Maria Landqvist Waldö</name></author><author><name sortKey="Nilsson, Karin" sort="Nilsson, Karin" uniqKey="Nilsson K" first="Karin" last="Nilsson">Karin Nilsson</name></author><author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name></author><author><name sortKey="Mackenzie, Ian R A" sort="Mackenzie, Ian R A" uniqKey="Mackenzie I" first="Ian R A" last="Mackenzie">Ian R A. Mackenzie</name></author><author><name sortKey="Hsiung, Ging Yuek R" sort="Hsiung, Ging Yuek R" uniqKey="Hsiung G" first="Ging-Yuek R" last="Hsiung">Ging-Yuek R. Hsiung</name></author><author><name sortKey="Mann, David M A" sort="Mann, David M A" uniqKey="Mann D" first="David M A" last="Mann">David M A. Mann</name></author><author><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name></author><author><name sortKey="Morris, Christopher M" sort="Morris, Christopher M" uniqKey="Morris C" first="Christopher M" last="Morris">Christopher M. Morris</name></author><author><name sortKey="Attems, Johannes" sort="Attems, Johannes" uniqKey="Attems J" first="Johannes" last="Attems">Johannes Attems</name></author><author><name sortKey="Griffiths, Timothy D" sort="Griffiths, Timothy D" uniqKey="Griffiths T" first="Timothy D" last="Griffiths">Timothy D. Griffiths</name></author><author><name sortKey="Mckeith, Ian G" sort="Mckeith, Ian G" uniqKey="Mckeith I" first="Ian G" last="Mckeith">Ian G. Mckeith</name></author><author><name sortKey="Thomas, Alan J" sort="Thomas, Alan J" uniqKey="Thomas A" first="Alan J" last="Thomas">Alan J. Thomas</name></author><author><name sortKey="Pietrini, P" sort="Pietrini, P" uniqKey="Pietrini P" first="P" last="Pietrini">P. Pietrini</name></author><author><name sortKey="Huey, Edward D" sort="Huey, Edward D" uniqKey="Huey E" first="Edward D" last="Huey">Edward D. Huey</name></author><author><name sortKey="Wassermann, Eric M" sort="Wassermann, Eric M" uniqKey="Wassermann E" first="Eric M" last="Wassermann">Eric M. Wassermann</name></author><author><name sortKey="Baborie, Atik" sort="Baborie, Atik" uniqKey="Baborie A" first="Atik" last="Baborie">Atik Baborie</name></author><author><name sortKey="Jaros, Evelyn" sort="Jaros, Evelyn" uniqKey="Jaros E" first="Evelyn" last="Jaros">Evelyn Jaros</name></author><author><name sortKey="Tierney, Michael C" sort="Tierney, Michael C" uniqKey="Tierney M" first="Michael C" last="Tierney">Michael C. Tierney</name></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></author><author><name sortKey="Razquin, Cristina" sort="Razquin, Cristina" uniqKey="Razquin C" first="Cristina" last="Razquin">Cristina Razquin</name></author><author><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name></author><author><name sortKey="Alonso, Elena" sort="Alonso, Elena" uniqKey="Alonso E" first="Elena" last="Alonso">Elena Alonso</name></author><author><name sortKey="Perneczky, Robert" sort="Perneczky, Robert" uniqKey="Perneczky R" first="Robert" last="Perneczky">Robert Perneczky</name></author><author><name sortKey="Diehl Schmid, Janine" sort="Diehl Schmid, Janine" uniqKey="Diehl Schmid J" first="Janine" last="Diehl-Schmid">Janine Diehl-Schmid</name></author><author><name sortKey="Alexopoulos, Panagiotis" sort="Alexopoulos, Panagiotis" uniqKey="Alexopoulos P" first="Panagiotis" last="Alexopoulos">Panagiotis Alexopoulos</name></author><author><name sortKey="Kurz, Alexander" sort="Kurz, Alexander" uniqKey="Kurz A" first="Alexander" last="Kurz">Alexander Kurz</name></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name></author><author><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author><author><name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St" last="George-Hyslop">Peter St George-Hyslop</name></author><author><name sortKey="Rossi, Giacomina" sort="Rossi, Giacomina" uniqKey="Rossi G" first="Giacomina" last="Rossi">Giacomina Rossi</name></author><author><name sortKey="Tagliavini, Fabrizio" sort="Tagliavini, Fabrizio" uniqKey="Tagliavini F" first="Fabrizio" last="Tagliavini">Fabrizio Tagliavini</name></author><author><name sortKey="Giaccone, Giorgio" sort="Giaccone, Giorgio" uniqKey="Giaccone G" first="Giorgio" last="Giaccone">Giorgio Giaccone</name></author><author><name sortKey="Rowe, James B" sort="Rowe, James B" uniqKey="Rowe J" first="James B" last="Rowe">James B. Rowe</name></author><author><name sortKey="Schlachetzki, J C M" sort="Schlachetzki, J C M" uniqKey="Schlachetzki J" first="J C M" last="Schlachetzki">J C M. Schlachetzki</name></author><author><name sortKey="Uphill, James" sort="Uphill, James" uniqKey="Uphill J" first="James" last="Uphill">James Uphill</name></author><author><name sortKey="Collinge, John" sort="Collinge, John" uniqKey="Collinge J" first="John" last="Collinge">John Collinge</name></author><author><name sortKey="Mead, S" sort="Mead, S" uniqKey="Mead S" first="S" last="Mead">S. Mead</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></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></author><author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name></author><author><name sortKey="Trojanowsk, John Q" sort="Trojanowsk, John Q" uniqKey="Trojanowsk J" first="John Q" last="Trojanowsk">John Q. Trojanowsk</name></author><author><name sortKey="Van Der Zee, Julie" sort="Van Der Zee, Julie" uniqKey="Van Der Zee J" first="Julie" last="Van Der Zee">Julie Van Der Zee</name></author><author><name sortKey="Deschamps, William" sort="Deschamps, William" uniqKey="Deschamps W" first="William" last="Deschamps">William Deschamps</name></author><author><name sortKey="Van Langenhove, Tim" sort="Van Langenhove, Tim" uniqKey="Van Langenhove T" first="Tim" last="Van Langenhove">Tim Van Langenhove</name></author><author><name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></author><author><name sortKey="Cappa, Stefano F" sort="Cappa, Stefano F" uniqKey="Cappa S" first="Stefano F" last="Cappa">Stefano F. Cappa</name></author><author><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name></author><author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name></author><author><name sortKey="Golfier, Veronique" sort="Golfier, Veronique" uniqKey="Golfier V" first="Véronique" last="Golfier">Véronique Golfier</name></author><author><name sortKey="Vercelletto, Martine" sort="Vercelletto, Martine" uniqKey="Vercelletto M" first="Martine" last="Vercelletto">Martine Vercelletto</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Nacmias, Benedetta" sort="Nacmias, Benedetta" uniqKey="Nacmias B" first="Benedetta" last="Nacmias">Benedetta Nacmias</name></author><author><name sortKey="Sorbi, Sandro" sort="Sorbi, Sandro" uniqKey="Sorbi S" first="Sandro" last="Sorbi">Sandro Sorbi</name></author><author><name sortKey="Bagnoli, Silvia" sort="Bagnoli, Silvia" uniqKey="Bagnoli S" first="Silvia" last="Bagnoli">Silvia Bagnoli</name></author><author><name sortKey="Piaceri, Irene" sort="Piaceri, Irene" uniqKey="Piaceri I" first="Irene" last="Piaceri">Irene Piaceri</name></author><author><name sortKey="Nielsen, J Rgen E" sort="Nielsen, J Rgen E" uniqKey="Nielsen J" first="J Rgen E" last="Nielsen">J Rgen E. Nielsen</name></author><author><name sortKey="Hjermind, Lena E" sort="Hjermind, Lena E" uniqKey="Hjermind L" first="Lena E" last="Hjermind">Lena E. Hjermind</name></author><author><name sortKey="Riemenschneider, Matthias" sort="Riemenschneider, Matthias" uniqKey="Riemenschneider M" first="Matthias" last="Riemenschneider">Matthias Riemenschneider</name></author><author><name sortKey="Mayhaus, Manuel" sort="Mayhaus, Manuel" uniqKey="Mayhaus M" first="Manuel" last="Mayhaus">Manuel Mayhaus</name></author><author><name sortKey="Ibach, Bernd" sort="Ibach, Bernd" uniqKey="Ibach B" first="Bernd" last="Ibach">Bernd Ibach</name></author><author><name sortKey="Gasparoni, Gilles" sort="Gasparoni, Gilles" uniqKey="Gasparoni G" first="Gilles" last="Gasparoni">Gilles Gasparoni</name></author><author><name sortKey="Pichler, Sabrina" sort="Pichler, Sabrina" uniqKey="Pichler S" first="Sabrina" last="Pichler">Sabrina Pichler</name></author><author><name sortKey="Gu, Wei" sort="Gu, Wei" uniqKey="Gu W" first="Wei" last="Gu">Wei Gu</name></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N" last="Rossor">Martin N. Rossor</name></author><author><name sortKey="Fox, Nick C" sort="Fox, Nick C" uniqKey="Fox N" first="Nick C" last="Fox">Nick C. Fox</name></author><author><name sortKey="Warren, Jason D" sort="Warren, Jason D" uniqKey="Warren J" first="Jason D" last="Warren">Jason D. Warren</name></author><author><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name></author><author><name sortKey="Rizzu, Patrizia" sort="Rizzu, Patrizia" uniqKey="Rizzu P" first="Patrizia" last="Rizzu">Patrizia Rizzu</name></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name></author><author><name sortKey="Snowden, Julie S" sort="Snowden, Julie S" uniqKey="Snowden J" first="Julie S" last="Snowden">Julie S. Snowden</name></author><author><name sortKey="Rollinson, Sara" sort="Rollinson, Sara" uniqKey="Rollinson S" first="Sara" last="Rollinson">Sara Rollinson</name></author><author><name sortKey="Richardson, Anna" sort="Richardson, Anna" uniqKey="Richardson A" first="Anna" last="Richardson">Anna Richardson</name></author><author><name sortKey="Gerhard, Alexander" sort="Gerhard, Alexander" uniqKey="Gerhard A" first="Alexander" last="Gerhard">Alexander Gerhard</name></author><author><name sortKey="Bruni, Amalia C" sort="Bruni, Amalia C" uniqKey="Bruni A" first="Amalia C" last="Bruni">Amalia C. Bruni</name></author><author><name sortKey="Maletta, Raffaele" sort="Maletta, Raffaele" uniqKey="Maletta R" first="Raffaele" last="Maletta">Raffaele Maletta</name></author><author><name sortKey="Frangipane, Francesca" sort="Frangipane, Francesca" uniqKey="Frangipane F" first="Francesca" last="Frangipane">Francesca Frangipane</name></author><author><name sortKey="Cupidi, Chiara" sort="Cupidi, Chiara" uniqKey="Cupidi C" first="Chiara" last="Cupidi">Chiara Cupidi</name></author><author><name sortKey="Bernardi, Livia" sort="Bernardi, Livia" uniqKey="Bernardi L" first="Livia" last="Bernardi">Livia Bernardi</name></author><author><name sortKey="Anfossi, Maria" sort="Anfossi, Maria" uniqKey="Anfossi M" first="Maria" last="Anfossi">Maria Anfossi</name></author><author><name sortKey="Gallo, Maura" sort="Gallo, Maura" uniqKey="Gallo M" first="Maura" last="Gallo">Maura Gallo</name></author><author><name sortKey="Conidi, Maria Elena" sort="Conidi, Maria Elena" uniqKey="Conidi M" first="Maria Elena" last="Conidi">Maria Elena Conidi</name></author><author><name sortKey="Smirne, Nicoletta" sort="Smirne, Nicoletta" uniqKey="Smirne N" first="Nicoletta" last="Smirne">Nicoletta Smirne</name></author><author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name></author><author><name sortKey="Baker, Matt" sort="Baker, Matt" uniqKey="Baker M" first="Matt" last="Baker">Matt Baker</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R" last="Graff-Radford">Neill R. Graff-Radford</name></author><author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C" last="Petersen">Ronald C. Petersen</name></author><author><name sortKey="Knopman, David" sort="Knopman, David" uniqKey="Knopman D" first="David" last="Knopman">David Knopman</name></author><author><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A" last="Josephs">Keith A. Josephs</name></author><author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F" last="Boeve">Bradley F. Boeve</name></author><author><name sortKey="Parisi, Joseph E" sort="Parisi, Joseph E" uniqKey="Parisi J" first="Joseph E" last="Parisi">Joseph E. Parisi</name></author><author><name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W" last="Seeley">William W. Seeley</name></author><author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L" last="Miller">Bruce L. Miller</name></author><author><name sortKey="Karydas, Anna M" sort="Karydas, Anna M" uniqKey="Karydas A" first="Anna M" last="Karydas">Anna M. Karydas</name></author><author><name sortKey="Rosen, Howard" sort="Rosen, Howard" uniqKey="Rosen H" first="Howard" last="Rosen">Howard Rosen</name></author><author><name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C" last="Van Swieten">John C. Van Swieten</name></author><author><name sortKey="Dopper, Elise G P" sort="Dopper, Elise G P" uniqKey="Dopper E" first="Elise G P" last="Dopper">Elise G P. Dopper</name></author><author><name sortKey="Seelaar, Harro" sort="Seelaar, Harro" uniqKey="Seelaar H" first="Harro" last="Seelaar">Harro Seelaar</name></author><author><name sortKey="Pijnenburg, Yolande Al" sort="Pijnenburg, Yolande Al" uniqKey="Pijnenburg Y" first="Yolande Al" last="Pijnenburg">Yolande Al Pijnenburg</name></author><author><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name></author><author><name sortKey="Logroscino, Giancarlo" sort="Logroscino, Giancarlo" uniqKey="Logroscino G" first="Giancarlo" last="Logroscino">Giancarlo Logroscino</name></author><author><name sortKey="Capozzo, Rosa" sort="Capozzo, Rosa" uniqKey="Capozzo R" first="Rosa" last="Capozzo">Rosa Capozzo</name></author><author><name sortKey="Novelli, Valeria" sort="Novelli, Valeria" uniqKey="Novelli V" first="Valeria" last="Novelli">Valeria Novelli</name></author><author><name sortKey="Puca, Annibale A" sort="Puca, Annibale A" uniqKey="Puca A" first="Annibale A" last="Puca">Annibale A. Puca</name></author><author><name sortKey="Franceschi, M" sort="Franceschi, M" uniqKey="Franceschi M" first="M" last="Franceschi">M. Franceschi</name></author><author><name sortKey="Postiglione, Alfredo" sort="Postiglione, Alfredo" uniqKey="Postiglione A" first="Alfredo" last="Postiglione">Alfredo Postiglione</name></author><author><name sortKey="Milan, Graziella" sort="Milan, Graziella" uniqKey="Milan G" first="Graziella" last="Milan">Graziella Milan</name></author><author><name sortKey="Sorrentino, Paolo" sort="Sorrentino, Paolo" uniqKey="Sorrentino P" first="Paolo" last="Sorrentino">Paolo Sorrentino</name></author><author><name sortKey="Kristiansen, Mark" sort="Kristiansen, Mark" uniqKey="Kristiansen M" first="Mark" last="Kristiansen">Mark Kristiansen</name></author><author><name sortKey="Chiang, Huei Hsin" sort="Chiang, Huei Hsin" uniqKey="Chiang H" first="Huei-Hsin" last="Chiang">Huei-Hsin Chiang</name></author><author><name sortKey="Graff, Caroline" sort="Graff, Caroline" uniqKey="Graff C" first="Caroline" last="Graff">Caroline Graff</name></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name></author><author><name sortKey="Rollin, Adeline" sort="Rollin, Adeline" uniqKey="Rollin A" first="Adeline" last="Rollin">Adeline Rollin</name></author><author><name sortKey="Deramecourt, Vincent" sort="Deramecourt, Vincent" uniqKey="Deramecourt V" first="Vincent" last="Deramecourt">Vincent Deramecourt</name></author><author><name sortKey="Lebert, Florence" sort="Lebert, Florence" uniqKey="Lebert F" first="Florence" last="Lebert">Florence Lebert</name></author><author><name sortKey="Kapogiannis, Dimitrios" sort="Kapogiannis, Dimitrios" uniqKey="Kapogiannis D" first="Dimitrios" last="Kapogiannis">Dimitrios Kapogiannis</name></author><author><name sortKey="Ferrucci, Luigi" sort="Ferrucci, Luigi" uniqKey="Ferrucci L" first="Luigi" last="Ferrucci">Luigi Ferrucci</name></author><author><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name></author></analytic><series><title level="j">Lancet neurology</title><idno type="ISSN">1474-4422</idno><idno type="eISSN">1474-4465</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Summary</title><sec id="S1"><title>Background</title><p id="P3">Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes—<italic>MAPT, GRN,</italic> and <italic>C9orf72</italic>—have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.</p></sec><sec id="S2"><title>Methods</title><p id="P4">We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. All participants had European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10<sup>−8</sup>) and suggestive single-nucleotide polymorphisms.</p></sec><sec id="S3"><title>Findings</title><p id="P5">We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10<sup>−8</sup>) that encompassed the <italic>HLA</italic> locus at 6p21.3 in the entire cohort. We also identified a potential novel locus at 11q14, encompassing <italic>RAB38/CTSC</italic>, for the behavioural FTD subtype. Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation <italic>incis</italic>.</p></sec><sec id="S4"><title>Interpretation</title><p id="P6">Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and possibly to shed light on the pathomechanisms contributing to FTD.</p></sec><sec id="S5"><title>Funding</title><p id="P7">The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/ MRC Centre on Parkinson’s disease, Alzheimer’s Research UK, and Texas Tech University Health Sciences Center.</p></sec></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">101139309</journal-id><journal-id journal-id-type="pubmed-jr-id">30413</journal-id><journal-id journal-id-type="nlm-ta">Lancet Neurol</journal-id><journal-id journal-id-type="iso-abbrev">Lancet Neurol</journal-id><journal-title-group><journal-title>Lancet neurology</journal-title></journal-title-group><issn pub-type="ppub">1474-4422</issn><issn pub-type="epub">1474-4465</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24943344</article-id><article-id pub-id-type="pmc">4112126</article-id><article-id pub-id-type="doi">10.1016/S1474-4422(14)70065-1</article-id><article-id pub-id-type="manuscript">NIHMS599470</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Frontotemporal dementia and its subtypes: a genome-wide association study</article-title></title-group><contrib-group><contrib 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contrib-type="author"><name><surname>Capozzo</surname><given-names>Rosa</given-names></name></contrib><contrib contrib-type="author"><name><surname>Novelli</surname><given-names>Valeria</given-names></name></contrib><contrib contrib-type="author"><name><surname>Puca</surname><given-names>Annibale A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Franceschi</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Postiglione</surname><given-names>Alfredo</given-names></name></contrib><contrib contrib-type="author"><name><surname>Milan</surname><given-names>Graziella</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sorrentino</surname><given-names>Paolo</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kristiansen</surname><given-names>Mark</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chiang</surname><given-names>Huei-Hsin</given-names></name></contrib><contrib contrib-type="author"><name><surname>Graff</surname><given-names>Caroline</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pasquier</surname><given-names>Florence</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rollin</surname><given-names>Adeline</given-names></name></contrib><contrib contrib-type="author"><name><surname>Deramecourt</surname><given-names>Vincent</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lebert</surname><given-names>Florence</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kapogiannis</surname><given-names>Dimitrios</given-names></name></contrib><contrib contrib-type="author"><name><surname>Ferrucci</surname><given-names>Luigi</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pickering-Brown</surname><given-names>Stuart</given-names></name></contrib><contrib contrib-type="author"><name><surname>Singleton</surname><given-names>Andrew B</given-names></name><xref ref-type="author-notes" rid="FN2">†</xref></contrib><contrib contrib-type="author"><name><surname>Hardy</surname><given-names>John</given-names></name><xref ref-type="author-notes" rid="FN2">†</xref></contrib><contrib contrib-type="author"><name><surname>Momeni</surname><given-names>Parastoo</given-names></name><xref ref-type="author-notes" rid="FN2">†</xref></contrib><aff id="A1">Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA (R Ferrari MSc, P Momeni PhD); Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK (R Ferrari, D G Hernandez MSc, J D Rohrer PhD, A Ramasamy PhD, J Hardy PhD); Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA (D G Hernandez, M A Nalls PhD, A B Singleton PhD); Clinical Research Branch, National Institute on Aging, Baltimore, MD, USA (L Ferrucci MD); Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK (J S Snowden PhD, S Rollinson PhD, S Pickering-Brown PhD); Neuroscience Research Australia, Sydney, NSW, Australia (J B J Kwok PhD, C Dobson-Stone PhD, W S Brooks MBBS, P R Schofield DSc, G M Halliday PhD, J R Hodges MD, O Piguet PhD, L Bartley MSc); University of New South Wales, Sydney, NSW, Australia (J B J Kwok, C Dobson-Stone, W S Brooks, P R Schofield, G M Halliday, J R Hodges, O Piguet); South Australian Clinical Genetics Service, SA Pathology at Women’s and Children’s Hospital, North Adelaide, SA, Australia (E Thompson MD, E Haan MBBS); Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia (E Thompson, E Haan); Memory Clinic of Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain (I Hernández MD, A Ruiz MD, M Boada MD); Hospital Universitari Vall d’Hebron–Institut de Recerca, Universitat Autonoma de Barcelona (VHIR-UAB), Barcelona, Spain (M Boada); Neurology Clinic, University of Brescia, Brescia, Italy (B Borroni MD, A Padovani MD); Department of Psychiatry (C Cruchaga PhD), Hope Center (C Cruchaga, N J Cairns PhD), Washington University School of Medicine, St Louis, Missouri, USA; Department of Pathology and Immunology, Washington University, St Louis, Missouri, USA (N J Cairns); NeuroBioGen Lab-Memory Clinic, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy (L Benussi PhD, G Binetti MD); Proteomics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia Italy (L Benussi, G Binetti); Biology of Neurodegenerative Disorders, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy (G Forloni PhD); University of Milan, Milan, Italy (D Galimberti PhD, C Fenoglio PhD, M Serpente PhD, E Scarpini MD); Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy (D Galimberti, C Fenoglio, M Serpente, E Scarpini); Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain (J Clarimón PhD, A Lleó MD, R Blesa MD); Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid, Spain (J Clarimón, A Lleó, R Blesa, P Pastor MD, S Ortega-Cubero MD); Unit of Geriatric Psychiatry (M L Waldö MD, K Nilsson PhD), Clinical Memory Research Unit (C Nilsson PhD), Department of Clinical Sciences, Lund University, Sweden; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada (I R A Mackenzie MD); Division of Neurology, University of British Columbia, Vancouver, Canada (G-Y R Hsiung MD); Institute of Brain, Behaviour and Mental Health, University of Manchester, Salford Royal Hospital, Stott Lane, Salford, UK (D M A Mann PhD); Rehabilitation Institute of Chicago, Departments of Physical Medicine and Rehabilitation, Psychiatry, and Cognitive Neurology and Alzheimer’s Disease Center; Feinberg School of Medicine, Northwestern University, USA (J Grafman PhD, C M Morris PhD, J Attems MD, T D Griffiths FMedSci); Department of Psychology, Weinberg College of Arts and Sciences, Northwestern University, USA (J Grafman); Newcastle Brain Tissue Resource, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK (C M Morris, J Attems MD, T D Griffiths FMedSci); Newcastle University, Institute for Ageing and Health, Campus for Ageing and Vitality, Newcastle upon Tyne, UK (C M Morris, J Attems MD, A J Thomas PhD, E Jaros PhD); Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne, UK (C M Morris, T D Griffiths FMedSci); Biomedical Research Building, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK (I G McKeith MD); Clinical Psychology Branch, Pisa University Hospital, Pisa, Italy, Laboratory of Clinical Biochemistry and Molecular Biology, University of Pisa, Pisa, Italy (P Pietrini MD); Taub Institute, Departments of Psychiatry and Neurology, Columbia University, New York, NY, USA 10032 (E D Huey MD); Behavioral Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA (E M Wassermann MD, M C Tierney MSc); Neuropathology Department, Walton Centre FT, Liverpool, UK (A Baborie MD); Neuropathology/Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK (E Jaros); Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain (P Pastor, C Razquin PhD, S Ortega-Cubero, E Alonso BSc); Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain (P Pastor); Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology and Medicine, London, UK (R Perneczky MD); West London Cognitive Disorders Treatment and Research Unit, West London Mental Health Trust, London TW8 8 DS, UK (R Perneczky); Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany (R Perneczky, J Diehl-Schmid MD, P Alexopoulos MD, A Kurz MD); Neurology I, Department of Neuroscience, University of Torino, Italy, AO Città della Salute e della Scienza di Torino, Italy (I Rainero MD, E Rubino MD, L Pinessi MD); Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine, University of Toronto, Toronto, Ontario, Canada (E Rogaeva PhD, P St George-Hyslop MD); Cambridge Institute for Medical Research and the Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK (P St George-Hyslop); Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano Italy (G Rossi PhD, F Tagliavini MD, G Giaccone MD); Cambridge University Department of Clinical Neurosciences, Cambridge, CB2 0SZ, UK (J B Rowe PhD); MRC Cognition and Brain Sciences Unit, Cambridge, UK (J B Rowe); Behavioural and Clinical Neuroscience Institute, Cambridge, UK (J B Rowe); Department of Psychiatry and Psychotherapy, University of Freiburg Medical School, Germany (J C M Schlachetzki MD); Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany (J C M Schlachetzki); MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK (J Uphill BSc, J Collinge MD, S Mead PhD); Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany (A Danek MD); German Center for Neurodegenerative Diseases (DZNE), Munich, Germany (A Danek); University of Pennsylvania Perelman School of Medicine, Department of Neurology and Penn Frontotemporal Degeneration Center, Philadelphia, PA, USA (V M Van Deerlin PhD, M Grossman MD, J Q Trojanowski PhD); Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium (J van der Zee PhD, W Deschamps MSc, T Van Langenhove MD, M Cruts PhD, C Van Broeckhoven PhD); Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium (J van der Zee, W Deschamps, T Van Langenhove, M Cruts, C Van Broeckhoven); Neurorehabilitation Unit, Deptartment Of Clinical Neuroscience, Vita-Salute University and San Raffaele Scientific Institute, Milan, Italy (S F Cappa MD); Inserm, UMR_S975, CRICM, F-75013; UPMC Univ Paris 06, UMR_S975, F-75013; and CNRS UMR 7225, F-75013, Paris, France (I Le Ber MD, A Brice MD); AP-HP, Hôpital de la Salpêtrière, Département de neurologie-centre de références des démences rares, F-75013, Paris, France (I Le Ber, A Brice); Service de Neurologie, Inserm U1079, CNR-MAJ, Rouen University Hospital, France (D Hannequin MD); Service de neurologie, CH Saint Brieuc, France (V Golfier MD); Service de Neurologie, CHU Nantes, France (M Vercelletto MD); Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA) University of Florence, Florence, Italy (B Nacmias PhD, S Sorbi PhD, S Bagnoli PhD, I Piaceri PhD); Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Denmark (J E Nielsen MD, L E Hjermind MD); Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Denmark (J E Nielsen MD, L E Hjermind MD); Saarland University Hospital, Department for Psychiatry and Psychotherapy, Homburg/Saar, Germany (M Riemenschneider MD); Saarland University, Laboratory for Neurogenetics, Kirrberger, Homburg/Saar, Germany (M Riemenschneider, M Mayhaus PhD, G Gasparoni PhD, S Pichler MSc, W Gu PhD); University Regensburg, Department of Psychiatry, Psychotherapy and Psychosomatics, Universitätsstr 84, Regensburg, Germany (B Ibach PhD); Luxembourg Centre For Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg (W Gu); Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK (J D Rohrer, M N Rossor MD, N C Fox MD, J D Warren PhD); University of Cambridge, Department of Clinical Neurosciences, John Van Geest Brain Repair Centre, Cambridge, UK (M G Spillantini PhD); MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, School of Medicine, Cardiff, UK (H R Morris PhD); German Center of Neurodegenerative Diseases-Tübingen, Tübingen, Germany (P Rizzu PhD, P Heutink PhD); Salford Royal Foundation Trust, Faculty of Medical and Human Sciences, University of Manchester, UK (A Richardson MB); Institute of Brain, Behaviour and Mental Health, The University of Manchester, Withington, Manchester, UK (A Gerhard MD); Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy (A C Bruni MD, R Maletta MD, F Frangipane MD, C Cupidi MD, L Bernardi PhD, M Anfossi PhD, M Gallo PhD, M Elena Conidi PhD, N Smirne BSc); Department of Neuroscience (R Rademakers PhD, M Baker BSc, D W Dickson MD), Department of Neurology (N R Graff-Radford MD), Mayo Clinic Jacksonville, Jacksonville, FL, USA; Department of Neurology(R C Petersen MD, D Knopman MD, K A Josephs MD, B F Boeve MD), Department of Pathology (J E Parisi MD), Mayo Clinic Rochester, Rochester, MN USA; Department of Neurology (W W Seeley MD, B L Miller MD, A M Karydas BA, H Rosen MD), University of California, San Francisco, CA, USA; Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands (J C van Swieten MD, E G P Dopper MD, H Seelaar PhD); Department of Medical Genetics, VU university Medical Centre, Amsterdam, The Netherlands (J C van Swieten); Alzheimer Centre and Department of Neurology, VU University medical centre, Amsterdam, The Netherlands (Y A L Pijnenburg MD, P Scheltens MD); Department of Basic Medical Sciences, Neurosciences and Sense Organs of the Aldo Moro University of Bari, Italy (G Logroscino MD, R Capozzo MD); Department of Medical and Molecular Genetics, King<sup>1</sup>s College London, Guy’s Hospital, London, UK (A Ramasamy); Department of Molecular Cardiology, IRCCS Fondazione S Maugeri, Pavia, Italy (V Novelli PhD); Cardiovascular Research Unit, IRCCS Multimedica, Milan, Italy (An A Puca MD); Department of Medicine and Surgery, University of Salerno, Baronissi (SA), Italy (An A Puca); Neurology Department, IRCCS Multimedica, Milan, Italy (M Franceschi MD); Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy (A Postiglione MD); Geriatric Center Frullone- ASL Napoli 1 Centro, Naples, Italy (G Milan MD, P Sorrentino MD); UCL Genomics, Institute of Child Health (ICH), UCL, London, UK (M Kristiansen PhD); Karolinska Institutet, Department NVS, KI-Alzheimer Disease Research Center, Stockholm, Sweden (H-H Chiang PhD, C Graff MD); Department of Geriatric Medicine, Genetics Unit, Karolinska Universtiy Hospital, Stockholm (H-H Chiang, C Graff); Université Lille Nord de France, Lille, France (F Pasquier MD, A Rollin MD, V Deramecourt MD, F Lebert MD); and National Institute on Aging (NIA/NIH),, Baltimore, MD, USA (D Kapogiannis MD)</aff></contrib-group><author-notes><corresp id="cor1">Correspondence to: Dr John Hardy, Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK, <email>j.hardy@ucl.ac.uk</email></corresp><fn id="FN1" fn-type="equal"><label>*</label><p id="P1">Contributed equally</p></fn><fn id="FN2"><label>†</label><p id="P2">Joint last authors</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>6</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2015</year></pub-date><volume>13</volume><issue>7</issue><fpage>686</fpage><lpage>699</lpage><pmc-comment>elocation-id from pubmed: 10.1016/S1474-4422(14)70065-1</pmc-comment>
<abstract><title>Summary</title><sec id="S1"><title>Background</title><p id="P3">Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes—<italic>MAPT, GRN,</italic> and <italic>C9orf72</italic>—have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.</p></sec><sec id="S2"><title>Methods</title><p id="P4">We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. All participants had European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10<sup>−8</sup>) and suggestive single-nucleotide polymorphisms.</p></sec><sec id="S3"><title>Findings</title><p id="P5">We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10<sup>−8</sup>) that encompassed the <italic>HLA</italic> locus at 6p21.3 in the entire cohort. We also identified a potential novel locus at 11q14, encompassing <italic>RAB38/CTSC</italic>, for the behavioural FTD subtype. Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation <italic>incis</italic>.</p></sec><sec id="S4"><title>Interpretation</title><p id="P6">Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and possibly to shed light on the pathomechanisms contributing to FTD.</p></sec><sec id="S5"><title>Funding</title><p id="P7">The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/ MRC Centre on Parkinson’s disease, Alzheimer’s Research UK, and Texas Tech University Health Sciences Center.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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