ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Identifieur interne : 000464 ( Pmc/Checkpoint ); précédent : 000463; suivant : 000465ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Auteurs : Radha Desai [Royaume-Uni] ; Ann E. Frazier [Australie] ; Romina Durigon [Royaume-Uni] ; Harshil Patel [Royaume-Uni] ; Aleck W. Jones [Royaume-Uni] ; Ilaria Dalla Rosa [Royaume-Uni] ; Nicole J. Lake [Australie] ; Alison G. Compton [Australie] ; Hayley S. Mountford [Australie] ; Elena J. Tucker [Australie] ; Alice L. R. Mitchell [Royaume-Uni] ; Deborah Jackson [Royaume-Uni] ; Abdul Sesay [Royaume-Uni] ; Miriam Di Re [Royaume-Uni] ; Lambert P. Van Den Heuvel [Pays-Bas] ; Derek Burke [Royaume-Uni] ; David Francis [Australie] ; Sebastian Lunke [Australie] ; George Mcgillivray [Australie, Royaume-Uni] ; Simone Mandelstam [Australie] ; Fanny Mochel [France] ; Boris Keren [France] ; Claude Jardel [France] ; Anne M. Turner [Australie] ; P. Ian Andrews [Australie] ; Jan Smeitink [Pays-Bas] ; Johannes N. Spelbrink [Pays-Bas] ; Simon J. Heales [Royaume-Uni] ; Masakazu Kohda [Japon] ; Akira Ohtake [Japon] ; Kei Murayama [Japon] ; Yasushi Okazaki [Japon] ; Anne Lombès [Royaume-Uni, Pays-Bas] ; Ian J. Holt [Royaume-Uni, Espagne] ; David R. Thorburn [Australie] ; Antonella Spinazzola [Royaume-Uni]Source :
- Brain [ 0006-8950 ] ; 2017.
Abstract
Mitochondrial DNA dysfunction causes a range of neurological diseases. Desai, Frazier
Url:
DOI: 10.1093/brain/awx094
PubMed: 28549128
PubMed Central: 5445257
Affiliations:
- Australie, Espagne, France, Japon, Pays-Bas, Royaume-Uni
- Angleterre, Grand Londres, Gueldre, Victoria (État), Île-de-France
- Londres, Melbourne, Nimègue, Paris
- University College de Londres, Université de Melbourne
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>ATAD3</italic> gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism</title><author><name sortKey="Desai, Radha" sort="Desai, Radha" uniqKey="Desai R" first="Radha" last="Desai">Radha Desai</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation></author><author><name sortKey="Frazier, Ann E" sort="Frazier, Ann E" uniqKey="Frazier A" first="Ann E." last="Frazier">Ann E. Frazier</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Durigon, Romina" sort="Durigon, Romina" uniqKey="Durigon R" first="Romina" last="Durigon">Romina Durigon</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Patel, Harshil" sort="Patel, Harshil" uniqKey="Patel H" first="Harshil" last="Patel">Harshil Patel</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF4"> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT</wicri:regionArea><wicri:noRegion>London NW1 1AT</wicri:noRegion></affiliation></author><author><name sortKey="Jones, Aleck W" sort="Jones, Aleck W" uniqKey="Jones A" first="Aleck W." last="Jones">Aleck W. Jones</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Dalla Rosa, Ilaria" sort="Dalla Rosa, Ilaria" uniqKey="Dalla Rosa I" first="Ilaria" last="Dalla Rosa">Ilaria Dalla Rosa</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lake, Nicole J" sort="Lake, Nicole J" uniqKey="Lake N" first="Nicole J." last="Lake">Nicole J. Lake</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Compton, Alison G" sort="Compton, Alison G" uniqKey="Compton A" first="Alison G." last="Compton">Alison G. Compton</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Mountford, Hayley S" sort="Mountford, Hayley S" uniqKey="Mountford H" first="Hayley S." last="Mountford">Hayley S. Mountford</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Tucker, Elena J" sort="Tucker, Elena J" uniqKey="Tucker E" first="Elena J." last="Tucker">Elena J. Tucker</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Mitchell, Alice L R" sort="Mitchell, Alice L R" uniqKey="Mitchell A" first="Alice L. R." last="Mitchell">Alice L. R. Mitchell</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jackson, Deborah" sort="Jackson, Deborah" uniqKey="Jackson D" first="Deborah" last="Jackson">Deborah Jackson</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF4"> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT</wicri:regionArea><wicri:noRegion>London NW1 1AT</wicri:noRegion></affiliation></author><author><name sortKey="Sesay, Abdul" sort="Sesay, Abdul" uniqKey="Sesay A" first="Abdul" last="Sesay">Abdul Sesay</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF4"> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT</wicri:regionArea><wicri:noRegion>London NW1 1AT</wicri:noRegion></affiliation></author><author><name sortKey="Di Re, Miriam" sort="Di Re, Miriam" uniqKey="Di Re M" first="Miriam" last="Di Re">Miriam Di Re</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF5"> Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY</wicri:regionArea><wicri:noRegion>CB2 0XY</wicri:noRegion></affiliation></author><author><name sortKey="Van Den Heuvel, Lambert P" sort="Van Den Heuvel, Lambert P" uniqKey="Van Den Heuvel L" first="Lambert P." last="Van Den Heuvel">Lambert P. Van Den Heuvel</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Burke, Derek" sort="Burke, Derek" uniqKey="Burke D" first="Derek" last="Burke">Derek Burke</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF7"> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Francis, David" sort="Francis, David" uniqKey="Francis D" first="David" last="Francis">David Francis</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation></author><author><name sortKey="Lunke, Sebastian" sort="Lunke, Sebastian" uniqKey="Lunke S" first="Sebastian" last="Lunke">Sebastian Lunke</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF9"> Department of Pathology, University of Melbourne, Melbourne 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Department of Pathology, University of Melbourne, Melbourne 3052</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation></author><author><name sortKey="Mandelstam, Simone" sort="Mandelstam, Simone" uniqKey="Mandelstam S" first="Simone" last="Mandelstam">Simone Mandelstam</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF11"> The Florey Institute of Neuroscience and Mental Health Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> The Florey Institute of Neuroscience and Mental Health Melbourne</wicri:regionArea></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF12"> Departments of Radiology and Paediatrics, University of Melbourne, Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Departments of Radiology and Paediatrics, University of Melbourne, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF13"> AP-HP, Department of Genetics, GHU Pitié-Salpêtrière, Paris, F-75651 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea> AP-HP, Department of Genetics, GHU Pitié-Salpêtrière, Paris, F-75651 France</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">France</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awx094-AFF14"> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF14"> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awx094-AFF15"> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">France</settlement></placeName></affiliation></author><author><name sortKey="Jardel, Claude" sort="Jardel, Claude" uniqKey="Jardel C" first="Claude" last="Jardel">Claude Jardel</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF15"> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">France</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="awx094-AFF16"> Inserm U1016; CNRS UMR 8104; Université Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Inserm U1016; CNRS UMR 8104; Université Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Turner, Anne M" sort="Turner, Anne M" uniqKey="Turner A" first="Anne M." last="Turner">Anne M. Turner</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF17"> Department of Clinical Genetics, Sydney Children’s Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Department of Clinical Genetics, Sydney Children’s Hospital, Sydney, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF18"> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Ian Andrews, P" sort="Ian Andrews, P" uniqKey="Ian Andrews P" first="P." last="Ian Andrews">P. Ian Andrews</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF18"> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF19"> Department of Paediatric Neurology, Sydney Children’s Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Department of Paediatric Neurology, Sydney Children’s Hospital, Sydney, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Smeitink, Jan" sort="Smeitink, Jan" uniqKey="Smeitink J" first="Jan" last="Smeitink">Jan Smeitink</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Spelbrink, Johannes N" sort="Spelbrink, Johannes N" uniqKey="Spelbrink J" first="Johannes N." last="Spelbrink">Johannes N. Spelbrink</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Heales, Simon J" sort="Heales, Simon J" uniqKey="Heales S" first="Simon J." last="Heales">Simon J. Heales</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF7"> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF20"> Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Kohda, Masakazu" sort="Kohda, Masakazu" uniqKey="Kohda M" first="Masakazu" last="Kohda">Masakazu Kohda</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF21"> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Ohtake, Akira" sort="Ohtake, Akira" uniqKey="Ohtake A" first="Akira" last="Ohtake">Akira Ohtake</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF22"> Department of Pediatrics, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Department of Pediatrics, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Murayama, Kei" sort="Murayama, Kei" uniqKey="Murayama K" first="Kei" last="Murayama">Kei Murayama</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF23"> Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Department of Metabolism, Chiba Children’s Hospital, Chiba</wicri:regionArea><wicri:noRegion>Chiba</wicri:noRegion></affiliation></author><author><name sortKey="Okazaki, Yasushi" sort="Okazaki, Yasushi" uniqKey="Okazaki Y" first="Yasushi" last="Okazaki">Yasushi Okazaki</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF21"> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF24"> Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Lombes, Anne" sort="Lombes, Anne" uniqKey="Lombes A" first="Anne" last="Lombès">Anne Lombès</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Holt, Ian J" sort="Holt, Ian J" uniqKey="Holt I" first="Ian J." last="Holt">Ian J. Holt</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF25"> Biodonostia Health Research Institute, 20014 San Sebastián, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea> Biodonostia Health Research Institute, 20014 San Sebastián, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao</wicri:regionArea><wicri:noRegion>48013 Bilbao</wicri:noRegion></affiliation></author><author><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R." last="Thorburn">David R. Thorburn</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation></author><author><name sortKey="Spinazzola, Antonella" sort="Spinazzola, Antonella" uniqKey="Spinazzola A" first="Antonella" last="Spinazzola">Antonella Spinazzola</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF26"> MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28549128</idno><idno type="pmc">5445257</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445257</idno><idno type="RBID">PMC:5445257</idno><idno type="doi">10.1093/brain/awx094</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">002354</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002354</idno><idno type="wicri:Area/Pmc/Curation">002204</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002204</idno><idno type="wicri:Area/Pmc/Checkpoint">000464</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000464</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>ATAD3</italic> gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism</title><author><name sortKey="Desai, Radha" sort="Desai, Radha" uniqKey="Desai R" first="Radha" last="Desai">Radha Desai</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation></author><author><name sortKey="Frazier, Ann E" sort="Frazier, Ann E" uniqKey="Frazier A" first="Ann E." last="Frazier">Ann E. Frazier</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Durigon, Romina" sort="Durigon, Romina" uniqKey="Durigon R" first="Romina" last="Durigon">Romina Durigon</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Patel, Harshil" sort="Patel, Harshil" uniqKey="Patel H" first="Harshil" last="Patel">Harshil Patel</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF4"> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT</wicri:regionArea><wicri:noRegion>London NW1 1AT</wicri:noRegion></affiliation></author><author><name sortKey="Jones, Aleck W" sort="Jones, Aleck W" uniqKey="Jones A" first="Aleck W." last="Jones">Aleck W. Jones</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Dalla Rosa, Ilaria" sort="Dalla Rosa, Ilaria" uniqKey="Dalla Rosa I" first="Ilaria" last="Dalla Rosa">Ilaria Dalla Rosa</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lake, Nicole J" sort="Lake, Nicole J" uniqKey="Lake N" first="Nicole J." last="Lake">Nicole J. Lake</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Compton, Alison G" sort="Compton, Alison G" uniqKey="Compton A" first="Alison G." last="Compton">Alison G. Compton</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Mountford, Hayley S" sort="Mountford, Hayley S" uniqKey="Mountford H" first="Hayley S." last="Mountford">Hayley S. Mountford</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Tucker, Elena J" sort="Tucker, Elena J" uniqKey="Tucker E" first="Elena J." last="Tucker">Elena J. Tucker</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Mitchell, Alice L R" sort="Mitchell, Alice L R" uniqKey="Mitchell A" first="Alice L. R." last="Mitchell">Alice L. R. Mitchell</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jackson, Deborah" sort="Jackson, Deborah" uniqKey="Jackson D" first="Deborah" last="Jackson">Deborah Jackson</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF4"> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT</wicri:regionArea><wicri:noRegion>London NW1 1AT</wicri:noRegion></affiliation></author><author><name sortKey="Sesay, Abdul" sort="Sesay, Abdul" uniqKey="Sesay A" first="Abdul" last="Sesay">Abdul Sesay</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF4"> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT</wicri:regionArea><wicri:noRegion>London NW1 1AT</wicri:noRegion></affiliation></author><author><name sortKey="Di Re, Miriam" sort="Di Re, Miriam" uniqKey="Di Re M" first="Miriam" last="Di Re">Miriam Di Re</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF5"> Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY</wicri:regionArea><wicri:noRegion>CB2 0XY</wicri:noRegion></affiliation></author><author><name sortKey="Van Den Heuvel, Lambert P" sort="Van Den Heuvel, Lambert P" uniqKey="Van Den Heuvel L" first="Lambert P." last="Van Den Heuvel">Lambert P. Van Den Heuvel</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Burke, Derek" sort="Burke, Derek" uniqKey="Burke D" first="Derek" last="Burke">Derek Burke</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF7"> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Francis, David" sort="Francis, David" uniqKey="Francis D" first="David" last="Francis">David Francis</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation></author><author><name sortKey="Lunke, Sebastian" sort="Lunke, Sebastian" uniqKey="Lunke S" first="Sebastian" last="Lunke">Sebastian Lunke</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF9"> Department of Pathology, University of Melbourne, Melbourne 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Department of Pathology, University of Melbourne, Melbourne 3052</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation></author><author><name sortKey="Mandelstam, Simone" sort="Mandelstam, Simone" uniqKey="Mandelstam S" first="Simone" last="Mandelstam">Simone Mandelstam</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF11"> The Florey Institute of Neuroscience and Mental Health Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> The Florey Institute of Neuroscience and Mental Health Melbourne</wicri:regionArea></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF12"> Departments of Radiology and Paediatrics, University of Melbourne, Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Departments of Radiology and Paediatrics, University of Melbourne, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF13"> AP-HP, Department of Genetics, GHU Pitié-Salpêtrière, Paris, F-75651 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea> AP-HP, Department of Genetics, GHU Pitié-Salpêtrière, Paris, F-75651 France</wicri:regionArea><wicri:noRegion>75651 France</wicri:noRegion><wicri:noRegion>75651 France</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="awx094-AFF14"> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF14"> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF15"> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</wicri:regionArea><wicri:noRegion>75651 France</wicri:noRegion><wicri:noRegion>75651 France</wicri:noRegion></affiliation></author><author><name sortKey="Jardel, Claude" sort="Jardel, Claude" uniqKey="Jardel C" first="Claude" last="Jardel">Claude Jardel</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF15"> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</wicri:regionArea><wicri:noRegion>75651 France</wicri:noRegion><wicri:noRegion>75651 France</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF16"> Inserm U1016; CNRS UMR 8104; Université Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Inserm U1016; CNRS UMR 8104; Université Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris</wicri:regionArea><wicri:noRegion>75014 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Turner, Anne M" sort="Turner, Anne M" uniqKey="Turner A" first="Anne M." last="Turner">Anne M. Turner</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF17"> Department of Clinical Genetics, Sydney Children’s Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Department of Clinical Genetics, Sydney Children’s Hospital, Sydney, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF18"> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Ian Andrews, P" sort="Ian Andrews, P" uniqKey="Ian Andrews P" first="P." last="Ian Andrews">P. Ian Andrews</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF18"> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF19"> Department of Paediatric Neurology, Sydney Children’s Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Department of Paediatric Neurology, Sydney Children’s Hospital, Sydney, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Smeitink, Jan" sort="Smeitink, Jan" uniqKey="Smeitink J" first="Jan" last="Smeitink">Jan Smeitink</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Spelbrink, Johannes N" sort="Spelbrink, Johannes N" uniqKey="Spelbrink J" first="Johannes N." last="Spelbrink">Johannes N. Spelbrink</name><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Heales, Simon J" sort="Heales, Simon J" uniqKey="Heales S" first="Simon J." last="Heales">Simon J. Heales</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF7"> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF20"> Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Kohda, Masakazu" sort="Kohda, Masakazu" uniqKey="Kohda M" first="Masakazu" last="Kohda">Masakazu Kohda</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF21"> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Ohtake, Akira" sort="Ohtake, Akira" uniqKey="Ohtake A" first="Akira" last="Ohtake">Akira Ohtake</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF22"> Department of Pediatrics, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Department of Pediatrics, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Murayama, Kei" sort="Murayama, Kei" uniqKey="Murayama K" first="Kei" last="Murayama">Kei Murayama</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF23"> Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Department of Metabolism, Chiba Children’s Hospital, Chiba</wicri:regionArea><wicri:noRegion>Chiba</wicri:noRegion></affiliation></author><author><name sortKey="Okazaki, Yasushi" sort="Okazaki, Yasushi" uniqKey="Okazaki Y" first="Yasushi" last="Okazaki">Yasushi Okazaki</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF21"> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF24"> Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea> Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Lombes, Anne" sort="Lombes, Anne" uniqKey="Lombes A" first="Anne" last="Lombès">Anne Lombès</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="awx094-AFF6"> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Holt, Ian J" sort="Holt, Ian J" uniqKey="Holt I" first="Ian J." last="Holt">Ian J. Holt</name><affiliation wicri:level="1"><nlm:aff id="awx094-AFF1"> MRC Laboratory, Mill Hill, London NW71AA, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Laboratory, Mill Hill, London NW71AA</wicri:regionArea><wicri:noRegion>London NW71AA</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF25"> Biodonostia Health Research Institute, 20014 San Sebastián, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea> Biodonostia Health Research Institute, 20014 San Sebastián, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao</wicri:regionArea><wicri:noRegion>48013 Bilbao</wicri:noRegion></affiliation></author><author><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R." last="Thorburn">David R. Thorburn</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF2"> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF8"> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052</wicri:regionArea><wicri:noRegion>Melbourne VIC 3052</wicri:noRegion></affiliation></author><author><name sortKey="Spinazzola, Antonella" sort="Spinazzola, Antonella" uniqKey="Spinazzola A" first="Antonella" last="Spinazzola">Antonella Spinazzola</name><affiliation wicri:level="4"><nlm:aff id="awx094-AFF3"> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="awx094-AFF26"> MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mitochondrial DNA dysfunction causes a range of neurological diseases. Desai, Frazier <italic>et al</italic>. show that deletions in the <italic>ATAD3</italic> gene cluster create chimeric proteins that are associated with cerebellar defects, mitochondrial DNA disorganisation and perturbed cholesterol homeostasis. The findings link mitochondrial DNA, cholesterol, and brain development and function.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Akman, G" uniqKey="Akman G">G Akman</name></author><author><name sortKey="Desai, R" uniqKey="Desai R">R Desai</name></author><author><name sortKey="Bailey, Lj" uniqKey="Bailey L">LJ Bailey</name></author><author><name sortKey="Yasukawa, T" uniqKey="Yasukawa T">T Yasukawa</name></author><author><name sortKey="Dalla Rosa, I" uniqKey="Dalla Rosa I">I Dalla Rosa</name></author><author><name sortKey="Durigon, R" uniqKey="Durigon R">R Durigon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Area Gomez, E" uniqKey="Area Gomez E">E Area-Gomez</name></author><author><name sortKey="Schon, Ea" uniqKey="Schon E">EA Schon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ashley, N" uniqKey="Ashley N">N Ashley</name></author><author><name 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sortKey="Santorelli, Fm" uniqKey="Santorelli F">FM Santorelli</name></author><author><name sortKey="Rossi, A" uniqKey="Rossi A">A Rossi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bruno, Dl" uniqKey="Bruno D">DL Bruno</name></author><author><name sortKey="Stark, Z" uniqKey="Stark Z">Z Stark</name></author><author><name sortKey="Amor, Dj" uniqKey="Amor D">DJ Amor</name></author><author><name sortKey="Burgess, T" uniqKey="Burgess T">T Burgess</name></author><author><name sortKey="Butler, K" uniqKey="Butler K">K Butler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Calvo, Se" uniqKey="Calvo S">SE Calvo</name></author><author><name sortKey="Compton, Ag" uniqKey="Compton A">AG Compton</name></author><author><name sortKey="Hershman, Sg" uniqKey="Hershman S">SG Hershman</name></author><author><name sortKey="Lim, Sc" uniqKey="Lim S">SC Lim</name></author><author><name sortKey="Lieber, Ds" uniqKey="Lieber D">DS Lieber</name></author><author><name sortKey="Tucker, Ej" uniqKey="Tucker E">EJ Tucker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Casola, C" uniqKey="Casola C">C Casola</name></author><author><name sortKey="Zekonyte, U" uniqKey="Zekonyte U">U Zekonyte</name></author><author><name sortKey="Phillips, Ad" uniqKey="Phillips A">AD Phillips</name></author><author><name sortKey="Cooper, Dn" uniqKey="Cooper D">DN Cooper</name></author><author><name sortKey="Hahn, Mw" uniqKey="Hahn M">MW Hahn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cooper, Hm" uniqKey="Cooper H">HM Cooper</name></author><author><name sortKey="Yang, Y" uniqKey="Yang Y">Y Yang</name></author><author><name sortKey="Ylikallio, E" uniqKey="Ylikallio E">E Ylikallio</name></author><author><name sortKey="Khairullin, R" uniqKey="Khairullin R">R Khairullin</name></author><author><name sortKey="Woldegebriel, R" uniqKey="Woldegebriel R">R Woldegebriel</name></author><author><name sortKey="Lin, Kl" uniqKey="Lin K">KL Lin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cooper, St" uniqKey="Cooper S">ST Cooper</name></author><author><name sortKey="Lo, Hp" uniqKey="Lo H">HP Lo</name></author><author><name sortKey="North, Kn" uniqKey="North K">KN North</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dalla Rosa, I" uniqKey="Dalla Rosa I">I Dalla Rosa</name></author><author><name sortKey="Camara, Y" uniqKey="Camara Y">Y Camara</name></author><author><name sortKey="Durigon, R" uniqKey="Durigon R">R Durigon</name></author><author><name sortKey="Moss, Cf" uniqKey="Moss C">CF Moss</name></author><author><name sortKey="Vidoni, S" uniqKey="Vidoni S">S Vidoni</name></author><author><name sortKey="Akman, G" uniqKey="Akman G">G Akman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dalla Rosa, I" uniqKey="Dalla Rosa I">I Dalla Rosa</name></author><author><name sortKey="Durigon, R" uniqKey="Durigon R">R Durigon</name></author><author><name sortKey="Pearce, Sf" uniqKey="Pearce S">SF Pearce</name></author><author><name sortKey="Rorbach, J" uniqKey="Rorbach J">J Rorbach</name></author><author><name sortKey="Hirst, Em" uniqKey="Hirst E">EM Hirst</name></author><author><name sortKey="Vidoni, S" uniqKey="Vidoni S">S Vidoni</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Koning, Tj" uniqKey="De Koning T">TJ de Koning</name></author><author><name sortKey="De Vries, Ls" uniqKey="De Vries L">LS de Vries</name></author><author><name sortKey="Groenendaal, F" uniqKey="Groenendaal F">F Groenendaal</name></author><author><name sortKey="Ruitenbeek, W" uniqKey="Ruitenbeek W">W Ruitenbeek</name></author><author><name sortKey="Jansen, Gh" uniqKey="Jansen G">GH Jansen</name></author><author><name sortKey="Poll The, Bt" uniqKey="Poll The B">BT Poll-The</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dobin, A" uniqKey="Dobin A">A Dobin</name></author><author><name sortKey="Davis, Ca" uniqKey="Davis C">CA Davis</name></author><author><name sortKey="Schlesinger, F" uniqKey="Schlesinger F">F Schlesinger</name></author><author><name sortKey="Drenkow, J" uniqKey="Drenkow J">J Drenkow</name></author><author><name sortKey="Zaleski, C" uniqKey="Zaleski C">C Zaleski</name></author><author><name sortKey="Jha, S" uniqKey="Jha S">S Jha</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dumont, Bl" uniqKey="Dumont B">BL Dumont</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Edvardson, S" uniqKey="Edvardson S">S Edvardson</name></author><author><name sortKey="Shaag, A" uniqKey="Shaag A">A Shaag</name></author><author><name sortKey="Kolesnikova, O" uniqKey="Kolesnikova O">O Kolesnikova</name></author><author><name sortKey="Gomori, Jm" 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28549128</article-id><article-id pub-id-type="pmc">5445257</article-id><article-id pub-id-type="doi">10.1093/brain/awx094</article-id><article-id pub-id-type="publisher-id">awx094</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group></article-categories><title-group><article-title><italic>ATAD3</italic> gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Desai</surname><given-names>Radha</given-names></name><xref ref-type="aff" rid="awx094-AFF1">1</xref><xref ref-type="author-notes" rid="awx094-FN1"></xref></contrib><contrib contrib-type="author"><name><surname>Frazier</surname><given-names>Ann E.</given-names></name><xref ref-type="aff" rid="awx094-AFF2">2</xref><xref ref-type="author-notes" rid="awx094-FN1"></xref></contrib><contrib contrib-type="author"><name><surname>Durigon</surname><given-names>Romina</given-names></name><xref ref-type="aff" rid="awx094-AFF3">3</xref></contrib><contrib contrib-type="author"><name><surname>Patel</surname><given-names>Harshil</given-names></name><xref ref-type="aff" rid="awx094-AFF4">4</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Aleck W.</given-names></name><xref ref-type="aff" rid="awx094-AFF3">3</xref></contrib><contrib contrib-type="author"><name><surname>Dalla Rosa</surname><given-names>Ilaria</given-names></name><xref ref-type="aff" rid="awx094-AFF3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lake</surname><given-names>Nicole J.</given-names></name><xref ref-type="aff" rid="awx094-AFF2">2</xref></contrib><contrib contrib-type="author"><name><surname>Compton</surname><given-names>Alison G.</given-names></name><xref ref-type="aff" rid="awx094-AFF2">2</xref></contrib><contrib contrib-type="author"><name><surname>Mountford</surname><given-names>Hayley S.</given-names></name><xref ref-type="aff" rid="awx094-AFF2">2</xref><xref ref-type="author-notes" rid="awx094-FN1"></xref></contrib><contrib contrib-type="author"><name><surname>Tucker</surname><given-names>Elena J.</given-names></name><xref ref-type="aff" rid="awx094-AFF2">2</xref></contrib><contrib contrib-type="author"><name><surname>Mitchell</surname><given-names>Alice L. 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rid="awx094-AFF14">14</xref></contrib><contrib contrib-type="author"><name><surname>Keren</surname><given-names>Boris</given-names></name><xref ref-type="aff" rid="awx094-AFF14">14</xref><xref ref-type="aff" rid="awx094-AFF15">15</xref></contrib><contrib contrib-type="author"><name><surname>Jardel</surname><given-names>Claude</given-names></name><xref ref-type="aff" rid="awx094-AFF15">15</xref><xref ref-type="aff" rid="awx094-AFF16">16</xref></contrib><contrib contrib-type="author"><name><surname>Turner</surname><given-names>Anne M.</given-names></name><xref ref-type="aff" rid="awx094-AFF17">17</xref><xref ref-type="aff" rid="awx094-AFF18">18</xref></contrib><contrib contrib-type="author"><name><surname>Ian Andrews</surname><given-names>P.</given-names></name><xref ref-type="aff" rid="awx094-AFF18">18</xref><xref ref-type="aff" rid="awx094-AFF19">19</xref></contrib><contrib contrib-type="author"><name><surname>Smeitink</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="awx094-AFF6">6</xref></contrib><contrib contrib-type="author"><name><surname>Spelbrink</surname><given-names>Johannes N.</given-names></name><xref ref-type="aff" rid="awx094-AFF6">6</xref></contrib><contrib contrib-type="author"><name><surname>Heales</surname><given-names>Simon J.</given-names></name><xref ref-type="aff" rid="awx094-AFF7">7</xref><xref ref-type="aff" rid="awx094-AFF20">20</xref></contrib><contrib contrib-type="author"><name><surname>Kohda</surname><given-names>Masakazu</given-names></name><xref ref-type="aff" rid="awx094-AFF21">21</xref></contrib><contrib contrib-type="author"><name><surname>Ohtake</surname><given-names>Akira</given-names></name><xref ref-type="aff" rid="awx094-AFF22">22</xref></contrib><contrib contrib-type="author"><name><surname>Murayama</surname><given-names>Kei</given-names></name><xref ref-type="aff" rid="awx094-AFF23">23</xref></contrib><contrib contrib-type="author"><name><surname>Okazaki</surname><given-names>Yasushi</given-names></name><xref ref-type="aff" rid="awx094-AFF21">21</xref><xref ref-type="aff" rid="awx094-AFF24">24</xref></contrib><contrib contrib-type="author"><name><surname>Lombès</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="awx094-AFF1">1</xref><xref ref-type="aff" rid="awx094-AFF6">6</xref></contrib><contrib contrib-type="author"><name><surname>Holt</surname><given-names>Ian J.</given-names></name><xref ref-type="aff" rid="awx094-AFF1">1</xref><xref ref-type="aff" rid="awx094-AFF3">3</xref><xref ref-type="aff" rid="awx094-AFF25">25</xref><xref ref-type="author-notes" rid="awx094-FN1"></xref></contrib><contrib contrib-type="author"><name><surname>Thorburn</surname><given-names>David R.</given-names></name><xref ref-type="aff" rid="awx094-AFF2">2</xref><xref ref-type="aff" rid="awx094-AFF8">8</xref><xref ref-type="author-notes" rid="awx094-FN1"></xref></contrib><contrib contrib-type="author"><name><surname>Spinazzola</surname><given-names>Antonella</given-names></name><xref ref-type="aff" rid="awx094-AFF3">3</xref><xref ref-type="aff" rid="awx094-AFF26">26</xref><xref ref-type="author-notes" rid="awx094-FN1"></xref></contrib></contrib-group><aff id="awx094-AFF1"><label>1</label> MRC Laboratory, Mill Hill, London NW71AA, UK</aff><aff id="awx094-AFF2"><label>2</label> Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia</aff><aff id="awx094-AFF3"><label>3</label> Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK</aff><aff id="awx094-AFF4"><label>4</label> Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK</aff><aff id="awx094-AFF5"><label>5</label> Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY, UK</aff><aff id="awx094-AFF6"><label>6</label> Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands</aff><aff id="awx094-AFF7"><label>7</label> Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK</aff><aff id="awx094-AFF8"><label>8</label> Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia</aff><aff id="awx094-AFF9"><label>9</label> Department of Pathology, University of Melbourne, Melbourne 3052, Australia</aff><aff id="awx094-AFF10"><label>10</label> Royal Women’s Hospital, Melbourne, VIC 3052, Australia</aff><aff id="awx094-AFF11"><label>11</label> The Florey Institute of Neuroscience and Mental Health Melbourne, Australia</aff><aff id="awx094-AFF12"><label>12</label> Departments of Radiology and Paediatrics, University of Melbourne, Melbourne, Australia</aff><aff id="awx094-AFF13"><label>13</label> AP-HP, Department of Genetics, GHU Pitié-Salpêtrière, Paris, F-75651 France</aff><aff id="awx094-AFF14"><label>14</label> Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France</aff><aff id="awx094-AFF15"><label>15</label> AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France</aff><aff id="awx094-AFF16"><label>16</label> Inserm U1016; CNRS UMR 8104; Université Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris, France</aff><aff id="awx094-AFF17"><label>17</label> Department of Clinical Genetics, Sydney Children’s Hospital, Sydney, NSW, Australia</aff><aff id="awx094-AFF18"><label>18</label> School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW, Australia</aff><aff id="awx094-AFF19"><label>19</label> Department of Paediatric Neurology, Sydney Children’s Hospital, Sydney, NSW, Australia</aff><aff id="awx094-AFF20"><label>20</label> Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK</aff><aff id="awx094-AFF21"><label>21</label> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</aff><aff id="awx094-AFF22"><label>22</label> Department of Pediatrics, Saitama Medical University, Moroyama-machi, Iruma-gun, Saitama, Japan</aff><aff id="awx094-AFF23"><label>23</label> Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan</aff><aff id="awx094-AFF24"><label>24</label> Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka-shi, Saitama, Japan</aff><aff id="awx094-AFF25"><label>25</label> Biodonostia Health Research Institute, 20014 San Sebastián, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain</aff><aff id="awx094-AFF26"><label>26</label> MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK</aff><author-notes><corresp id="awx094-cor3"><sup>†</sup>Present address: Department of Biological and Medical Sciences, Oxford Brookes University, Headington Campus, OX3 0BP, UK</corresp><corresp id="awx094-COR1">Correspondence to: David Thorburn Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia E-mail: <email>david.thorburn@mcri.edu.au</email></corresp><corresp id="awx094-COR2">Correspondence to: Antonella Spinazzola Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK E-mail; <email>a.spinazzola@ucl.ac.uk</email></corresp><fn id="awx094-FN1"><p><sup>*,#</sup>These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>6</month><year>2017</year></pub-date><pub-date pub-type="epub" iso-8601-date="2017-05-24"><day>24</day><month>5</month><year>2017</year></pub-date><pub-date pub-type="pmc-release"><day>24</day><month>5</month><year>2017</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>140</volume><issue>6</issue><fpage>1595</fpage><lpage>1610</lpage><history><date date-type="received"><day>14</day><month>10</month><year>2016</year></date><date date-type="rev-recd"><day>16</day><month>2</month><year>2017</year></date><date date-type="accepted"><day>09</day><month>3</month><year>2017</year></date></history><permissions><copyright-statement>© The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.</copyright-statement><copyright-year>2017</copyright-year><license license-type="cc-by" xlink:href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:href="awx094.pdf"></self-uri><abstract abstract-type="teaser"><p>Mitochondrial DNA dysfunction causes a range of neurological diseases. Desai, Frazier <italic>et al</italic>. show that deletions in the <italic>ATAD3</italic> gene cluster create chimeric proteins that are associated with cerebellar defects, mitochondrial DNA disorganisation and perturbed cholesterol homeostasis. The findings link mitochondrial DNA, cholesterol, and brain development and function.</p></abstract><abstract><title>Abstract</title><p>Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the <italic>ATAD3C</italic>, <italic>ATAD3B</italic> and <italic>ATAD3A</italic> genes. Although high homology complicates genomic analysis of the <italic>ATAD3</italic> defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data. We report deletions that generate chimeric <italic>ATAD3B</italic>/<italic>ATAD3A</italic> fusion genes in individuals from four unrelated families with fatal congenital pontocerebellar hypoplasia, whereas a case with genomic rearrangements affecting the <italic>ATAD3C</italic>/<italic>ATAD3B</italic> genes on one allele and <italic>ATAD3B</italic>/<italic>ATAD3A</italic> genes on the other displays later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia. Fibroblasts from affected individuals display mitochondrial DNA abnormalities, associated with multiple indicators of altered cholesterol metabolism. Moreover, drug-induced perturbations of cholesterol homeostasis cause mitochondrial DNA disorganization in control cells, while mitochondrial DNA aggregation in the genetic cholesterol trafficking disorder Niemann-Pick type C disease further corroborates the interdependence of mitochondrial DNA organization and cholesterol. These data demonstrate the integration of mitochondria in cellular cholesterol homeostasis, in which ATAD3 plays a critical role. The dual problem of perturbed cholesterol metabolism and mitochondrial dysfunction could be widespread in neurological and neurodegenerative diseases.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>mitochondrial DNA</kwd><kwd>mitochondrial disease</kwd><kwd>cerebellar hypoplasia</kwd><kwd>ATAD3</kwd><kwd>cholesterol</kwd></kwd-group><funding-group><award-group award-type="grant"><funding-source><named-content content-type="funder-name">National Health and Medical Research Council (NHMRC)</named-content></funding-source><award-id>1068409</award-id><award-id>1107094</award-id></award-group><award-group award-type="grant"><funding-source><named-content content-type="funder-name">Australian Mitochondrial Disease Foundation</named-content></funding-source><award-id>1102896</award-id></award-group><award-group award-type="grant"><funding-source><named-content content-type="funder-name">NHMRC Early Career Fellowship</named-content></funding-source><award-id>1054432</award-id></award-group><award-group award-type="grant"><funding-source><named-content content-type="funder-name">Fondation pour la Recherche Médicale</named-content></funding-source><award-id>DPM20121125550</award-id></award-group><award-group award-type="grant"><funding-source><named-content content-type="funder-name">CSBB</named-content></funding-source><award-id>853.00.130</award-id></award-group></funding-group><counts><page-count count="16"></page-count></counts></article-meta></front></pmc><affiliations><list><country><li>Australie</li><li>Espagne</li><li>France</li><li>Japon</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Gueldre</li><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Londres</li><li>Melbourne</li><li>Nimègue</li><li>Paris</li></settlement><orgName><li>University College de Londres</li><li>Université de Melbourne</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Desai, Radha" sort="Desai, Radha" uniqKey="Desai R" first="Radha" last="Desai">Radha Desai</name></noRegion><name sortKey="Burke, Derek" sort="Burke, Derek" uniqKey="Burke D" first="Derek" last="Burke">Derek Burke</name><name sortKey="Dalla Rosa, Ilaria" sort="Dalla Rosa, Ilaria" uniqKey="Dalla Rosa I" first="Ilaria" last="Dalla Rosa">Ilaria Dalla Rosa</name><name sortKey="Di Re, Miriam" sort="Di Re, Miriam" uniqKey="Di Re M" first="Miriam" last="Di Re">Miriam Di Re</name><name sortKey="Durigon, Romina" sort="Durigon, Romina" uniqKey="Durigon R" first="Romina" last="Durigon">Romina Durigon</name><name sortKey="Heales, Simon J" sort="Heales, Simon J" uniqKey="Heales S" first="Simon J." last="Heales">Simon J. Heales</name><name sortKey="Heales, Simon J" sort="Heales, Simon J" uniqKey="Heales S" first="Simon J." last="Heales">Simon J. Heales</name><name sortKey="Holt, Ian J" sort="Holt, Ian J" uniqKey="Holt I" first="Ian J." last="Holt">Ian J. Holt</name><name sortKey="Holt, Ian J" sort="Holt, Ian J" uniqKey="Holt I" first="Ian J." last="Holt">Ian J. Holt</name><name sortKey="Jackson, Deborah" sort="Jackson, Deborah" uniqKey="Jackson D" first="Deborah" last="Jackson">Deborah Jackson</name><name sortKey="Jones, Aleck W" sort="Jones, Aleck W" uniqKey="Jones A" first="Aleck W." last="Jones">Aleck W. Jones</name><name sortKey="Lombes, Anne" sort="Lombes, Anne" uniqKey="Lombes A" first="Anne" last="Lombès">Anne Lombès</name><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><name sortKey="Mitchell, Alice L R" sort="Mitchell, Alice L R" uniqKey="Mitchell A" first="Alice L. R." last="Mitchell">Alice L. R. Mitchell</name><name sortKey="Patel, Harshil" sort="Patel, Harshil" uniqKey="Patel H" first="Harshil" last="Patel">Harshil Patel</name><name sortKey="Sesay, Abdul" sort="Sesay, Abdul" uniqKey="Sesay A" first="Abdul" last="Sesay">Abdul Sesay</name><name sortKey="Spinazzola, Antonella" sort="Spinazzola, Antonella" uniqKey="Spinazzola A" first="Antonella" last="Spinazzola">Antonella Spinazzola</name><name sortKey="Spinazzola, Antonella" sort="Spinazzola, Antonella" uniqKey="Spinazzola A" first="Antonella" last="Spinazzola">Antonella Spinazzola</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Frazier, Ann E" sort="Frazier, Ann E" uniqKey="Frazier A" first="Ann E." last="Frazier">Ann E. Frazier</name></region><name sortKey="Compton, Alison G" sort="Compton, Alison G" uniqKey="Compton A" first="Alison G." last="Compton">Alison G. Compton</name><name sortKey="Francis, David" sort="Francis, David" uniqKey="Francis D" first="David" last="Francis">David Francis</name><name sortKey="Ian Andrews, P" sort="Ian Andrews, P" uniqKey="Ian Andrews P" first="P." last="Ian Andrews">P. Ian Andrews</name><name sortKey="Ian Andrews, P" sort="Ian Andrews, P" uniqKey="Ian Andrews P" first="P." last="Ian Andrews">P. Ian Andrews</name><name sortKey="Lake, Nicole J" sort="Lake, Nicole J" uniqKey="Lake N" first="Nicole J." last="Lake">Nicole J. Lake</name><name sortKey="Lunke, Sebastian" sort="Lunke, Sebastian" uniqKey="Lunke S" first="Sebastian" last="Lunke">Sebastian Lunke</name><name sortKey="Lunke, Sebastian" sort="Lunke, Sebastian" uniqKey="Lunke S" first="Sebastian" last="Lunke">Sebastian Lunke</name><name sortKey="Mandelstam, Simone" sort="Mandelstam, Simone" uniqKey="Mandelstam S" first="Simone" last="Mandelstam">Simone Mandelstam</name><name sortKey="Mandelstam, Simone" sort="Mandelstam, Simone" uniqKey="Mandelstam S" first="Simone" last="Mandelstam">Simone Mandelstam</name><name sortKey="Mandelstam, Simone" sort="Mandelstam, Simone" uniqKey="Mandelstam S" first="Simone" last="Mandelstam">Simone Mandelstam</name><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><name sortKey="Mountford, Hayley S" sort="Mountford, Hayley S" uniqKey="Mountford H" first="Hayley S." last="Mountford">Hayley S. Mountford</name><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R." last="Thorburn">David R. Thorburn</name><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R." last="Thorburn">David R. Thorburn</name><name sortKey="Tucker, Elena J" sort="Tucker, Elena J" uniqKey="Tucker E" first="Elena J." last="Tucker">Elena J. Tucker</name><name sortKey="Turner, Anne M" sort="Turner, Anne M" uniqKey="Turner A" first="Anne M." last="Turner">Anne M. Turner</name><name sortKey="Turner, Anne M" sort="Turner, Anne M" uniqKey="Turner A" first="Anne M." last="Turner">Anne M. Turner</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Den Heuvel, Lambert P" sort="Van Den Heuvel, Lambert P" uniqKey="Van Den Heuvel L" first="Lambert P." last="Van Den Heuvel">Lambert P. Van Den Heuvel</name></region><name sortKey="Lombes, Anne" sort="Lombes, Anne" uniqKey="Lombes A" first="Anne" last="Lombès">Anne Lombès</name><name sortKey="Smeitink, Jan" sort="Smeitink, Jan" uniqKey="Smeitink J" first="Jan" last="Smeitink">Jan Smeitink</name><name sortKey="Spelbrink, Johannes N" sort="Spelbrink, Johannes N" uniqKey="Spelbrink J" first="Johannes N." last="Spelbrink">Johannes N. Spelbrink</name></country><country name="France"><noRegion><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name></noRegion><name sortKey="Jardel, Claude" sort="Jardel, Claude" uniqKey="Jardel C" first="Claude" last="Jardel">Claude Jardel</name><name sortKey="Jardel, Claude" sort="Jardel, Claude" uniqKey="Jardel C" first="Claude" last="Jardel">Claude Jardel</name><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><name sortKey="Mochel, Fanny" sort="Mochel, Fanny" uniqKey="Mochel F" first="Fanny" last="Mochel">Fanny Mochel</name></country><country name="Japon"><noRegion><name sortKey="Kohda, Masakazu" sort="Kohda, Masakazu" uniqKey="Kohda M" first="Masakazu" last="Kohda">Masakazu Kohda</name></noRegion><name sortKey="Murayama, Kei" sort="Murayama, Kei" uniqKey="Murayama K" first="Kei" last="Murayama">Kei Murayama</name><name sortKey="Ohtake, Akira" sort="Ohtake, Akira" uniqKey="Ohtake A" first="Akira" last="Ohtake">Akira Ohtake</name><name sortKey="Okazaki, Yasushi" sort="Okazaki, Yasushi" uniqKey="Okazaki Y" first="Yasushi" last="Okazaki">Yasushi Okazaki</name><name sortKey="Okazaki, Yasushi" sort="Okazaki, Yasushi" uniqKey="Okazaki Y" first="Yasushi" last="Okazaki">Yasushi Okazaki</name></country><country name="Espagne"><noRegion><name sortKey="Holt, Ian J" sort="Holt, Ian J" uniqKey="Holt I" first="Ian J." last="Holt">Ian J. 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