부산대학교 도서관

Gustavsson EK; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Sethi S; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.; Gao Y; Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.; Brenton JW; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; García-Ruiz S; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Zhang D; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Garza R; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.; Reynolds RH; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Evans JR; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; The Francis Crick Institute, London, UK.; Chen Z; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Grant-Peters M; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Macpherson H; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Montgomery K; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Dore R; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Wernick AI; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; The Francis Crick Institute, London, UK.; Arber C; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Wray S; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Gandhi S; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; The Francis Crick Institute, London, UK.; Esselborn J; Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.; Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.; Douse CH; Laboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Lund Stem Cell Center, Lund University, Lund, Sweden.; Adami A; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.; Atacho DAM; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.; Kouli A; Wellcome-MRC Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Quaegebeur A; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Department of Clinical Neurosciences, University of Cambridge, Clifford Albutt Building, Cambridge, UK.; Barker RA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Wellcome-MRC Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Englund E; Department of Neuropathology, University of Lund, Lund, Sweden.; Platt F; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Department of Pharmacology, University of Oxford, Oxford, UK.; Jakobsson J; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.; Wood NW; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, UCL, London, UK.; Saini H; Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.; Bento CF; Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.; Hardy J; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, UCL, London, UK.; UK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, UCL, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.; Ryten M; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Tan MMX; Department of Neurology, Oslo University Hospital, Oslo, Norway. manuela.tan@medisin.uio.no.; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK. manuela.tan@medisin.uio.no.; UCL Movement Disorders Centre, University College London, London, UK. manuela.tan@medisin.uio.no.; Lawton MA; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.; Pollard MI; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Brown E; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Real R; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Carrasco AM; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Bekadar S; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Departement of Neurology, Hôpital Pitié-Salpêtrière, Paris, France.; Jabbari E; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Reynolds RH; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Iwaki H; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Data Tecnica, Washington DC, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.; Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.; Kanavou S; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.; Hubbard L; Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.; Malek N; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK.; Grosset KA; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK.; Bajaj N; Clinical Neurosciences, University of Nottingham, Nottingham, UK.; Barker RA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Burn DJ; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Bresner C; Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.; Foltynie T; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Wood NW; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Williams-Gray CH; John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Andreassen OA; NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.; Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.; Elbaz A; Paris-Saclay University, UVSQ, Inserm, Gustave Roussy, 'Exposome and Heredity' team, CESP, 94807, Villejuif, France.; Artaud F; Paris-Saclay University, UVSQ, Inserm, Gustave Roussy, 'Exposome and Heredity' team, CESP, 94807, Villejuif, France.; Brice A; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Departement of Neurology, Hôpital Pitié-Salpêtrière, Paris, France.; Corvol JC; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Departement of Neurology, Hôpital Pitié-Salpêtrière, Paris, France.; Aasly J; Department of Neurology, St. Olavs Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science (INB), Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.; Farrer MJ; Department of Neurology, University of Florida, Gainesville, FL, USA.; Nalls MA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Data Tecnica, Washington DC, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.; Singleton AB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.; Williams NM; Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.; Ben-Shlomo Y; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.; Hardy J; UCL Movement Disorders Centre, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Neurodegenerative Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute, University College London, London, UK.; National Institute for Health Research (NIHR) University College London Hospitals Biomedical Research Centre, London, UK.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.; Hu MTM; Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, University of Oxford, Oxford, UK.; Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.; Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Grosset DG; School of Neuroscience and Psychology, University of Glasgow, Glasgow, UK.; Shoai M; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Neurodegenerative Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.; Pihlstrøm L; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Morris HR; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK. h.morris@ucl.ac.uk.; UCL Movement Disorders Centre, University College London, London, UK. h.morris@ucl.ac.uk.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA. h.morris@ucl.ac.uk.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

Fu B; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Brock EE; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Andrews R; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Breiter JC; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Centre for Misfolding Diseases, Yusuf Hamied Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K.; Tian R; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Centre for Misfolding Diseases, Yusuf Hamied Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K.; Toomey CE; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; The Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; Lachica J; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; The Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; The Francis Crick Institute, King's Cross, London NW1 1AT, U.K.; Lashley T; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; The Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; Ryten M; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, U.K.; UK Dementia Research Institute at the University of Cambridge, Cambridge CB2 0AH, U.K.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, U.K.; Wood NW; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; Vendruscolo M; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Centre for Misfolding Diseases, Yusuf Hamied Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K.; Gandhi S; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, U.K.; The Francis Crick Institute, King's Cross, London NW1 1AT, U.K.; Weiss LE; Department of Engineering Physics, Polytechnique Montréal, Montréal, Québec H3T 1J4, Canada.; Beckwith JS; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.; Lee SF; Yusuf Hamied Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, U.K.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, Maryland 20815, United States.

Publisher: American Chemical Society Country of Publication: United States NLM ID: 101157530 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-5207 (Electronic) Linking ISSN: 15205207 NLM ISO Abbreviation: J Phys Chem B Subsets: MEDLINE

Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.; Neurobiology and Medical Genetics Laboratory, 'Nicolae Testemitanu' State University of Medicine and Pharmacy, 165, Stefan cel Mare si Sfant Boulevard, MD, 2004, Chisinau, Republic of Moldova. v.chelban@ucl.ac.uk.; Aksnes H; Department of Biomedicine, University of Bergen, Bergen, Norway. henriette.aksnes@uib.no.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; LaMonica LC; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; Seabra L; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; Siggervåg A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Devic P; Hospices Civils de Lyon, Groupement Hospitalier Sud, Service d'Explorations Fonctionnelles Neurologiques, Lyon, France.; Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Richard AC; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Quenez O; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Bonnevalle A; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Zanetti MN; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; South Kazakhstan Medical Academy Shymkent, Shymkent, 160019, Kazakhstan.; Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Instituto de Investigaciones en Medicina Traslacional (IIMT), CONICET-Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.; Instituto de medicina genómica (IMeG), Hospital Universitario Austral, Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Tariq A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, United Kingdom.; Pennavaria A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Krogstad LS; Department of Biomedicine, University of Bergen, Bergen, Norway.; Bekkelund ÅK; Department of Biomedicine, University of Bergen, Bergen, Norway.; Caiella A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Glomnes N; Department of Biomedicine, University of Bergen, Bergen, Norway.; Department of Clinical Science, University of Bergen, 5020, Bergen, Norway.; Brønstad KM; Department of Biomedicine, University of Bergen, Bergen, Norway.; Tury S; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.; Moreno De Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Boland-Auge A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.; Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.; Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.; Anheim M; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.; Cretin B; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075, Göttingen, Germany.; Alajlan F; Department of Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Battini JL; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.; İpek R; Paediatric Neurology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.; Bauer P; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany.; Zifarelli G; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany.; Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatrics, Division of Pediatric Neurology, Malatya, Turkey.; Kurul SH; Dokuz Eylul University, School of Medicine, Department of Paediatric Neurology, Izmir, Turkey.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Weill Cornell Medical College, Doha, Qatar.; Gómez-Pascual A; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.; Botía JA; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.; Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Ernst AM; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; School of Biological Sciences, Department of Cell and Developmental Biology, University of California San Diego, La Jolla, CA, USA.; Rothman JE; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; McEntagart M; Medical Genetics Department, St George's University Hospitals, London, SWI7 0RE, UK.; Crow YJ; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Nicolas G; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.; Arnesen T; Department of Biomedicine, University of Bergen, Bergen, Norway. thomas.arnesen@uib.no.; Department of Surgery, Haukeland University Hospital, Bergen, Norway. thomas.arnesen@uib.no.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Almramhi MM; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Finan C; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Storm CS; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Schmidt AF; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Kia DA; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Coneys R; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Chopade S; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Hingorani AD; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands.; Wood NW; From the Department of Clinical and Movement Neurosciences (M.M.A., C.S.S., D.A.K., R.R.C., N.W.W.), University College London Queen Square Institute of Neurology, United Kingdom; Department of Medical Technology (M.M.A.), Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; Institute of Cardiovascular Science (C.F., A.F.S., S.C., A.D.H.), Faculty of Population Health, and Health Data Research UK London (A.D.H.), University College London; British Heart Foundation University College London Research Accelerator (C.F., A.F.S., S.C., A.D.H.), United Kingdom; and Department of Cardiology (C.F., A.F.S.), Division Heart and Lungs, University Medical Center Utrecht, the Netherlands. n.wood@ucl.ac.uk.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Tucci A; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Cipriani V; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Genetics Institute, University College London, London, United Kingdom.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; Butryn M; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.; Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.; Lam T; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George's Hospital NHS Trust, London, United Kingdom.; Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Cali E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Vestito L; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hahn GA; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.; Bartels C; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.; van Os NJH; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.; Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.; Chinnery PF; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Tiet MY; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.; Hewamadduma C; Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom.; Hadjivassiliou M; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and The University of Sheffield, Sheffield, United Kingdom.; Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.; Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Hayer SN; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Bender F; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Cordts I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany.; Klein K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Nguyen HP; Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany.; Krauss JK; Department of Neurosurgery, Hannover Medical School, Hannover, Germany.; Blahak C; Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.; Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.; Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Maček B; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.; Synofzik M; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Wolf ME; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany.; Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schöls L; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Houlden H; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hengel H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

Schreglmann SR; Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.; Goncalves T; Chromosome Maintenance Group, UCL Cancer Institute, University College London, London, UK.; Centre for Genome Engineering and Maintenance, College of Health, Medicine and Life Sciences, Brunel University London, London, UK.; Grant-Peters M; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Kia DA; Queen Square Institute of Neurology, University College London, London, UK.; Soreq L; Queen Square Institute of Neurology, University College London, London, UK.; Ryten M; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Wood NW; Queen Square Institute of Neurology, University College London, London, UK.; Bhatia KP; Queen Square Institute of Neurology, University College London, London, UK.; Tomita K; Chromosome Maintenance Group, UCL Cancer Institute, University College London, London, UK.; Centre for Genome Engineering and Maintenance, College of Health, Medicine and Life Sciences, Brunel University London, London, UK.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101130839 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-9726 (Electronic) Linking ISSN: 14749718 NLM ISO Abbreviation: Aging Cell Subsets: MEDLINE

Ronco R; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Perini C; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Currò R; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Dominik N; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Facchini S; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Gennari A; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Simone R; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Stuart S; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Nagy S; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Vegezzi E; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Quartesan I; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; El-Saddig A; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Lavin T; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Tucci A; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Szymura A; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Novis De Farias LE; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Gary A; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Delfeld M; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Kandikatla P; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Niu N; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Tawde S; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Shaw J; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Polke J; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Reilly MM; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Wood NW; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Crespan E; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Gomez C; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Chen JYH; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Schmahmann JD; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Gosal D; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Houlden H; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Das S; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.; Cortese A; From the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza' (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston. andrea.cortese@ucl.ac.uk.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Melandri D; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Annuario E; Department of Basic and Clinical Neuroscience, King's College, London, UK.; Monaghan AE; UCL Alzheimer's Research UK, Drug Discovery Institute, London, UK.; UCL Dementia Research Institute, London, UK.; Welsh NJ; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; D'Sa K; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Francis Crick Institute, London, UK.; Guelfi S; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Zhang D; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Pittman A; Genetics Research Centre, Molecular and Clinical Sciences, St Georges University, London, UK.; Trabzuni D; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Verboven AHA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands.; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands.; Pan KS; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Kia DA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK.; Bictash M; UCL Alzheimer's Research UK, Drug Discovery Institute, London, UK.; UCL Dementia Research Institute, London, UK.; Gandhi S; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Francis Crick Institute, London, UK.; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Cookson MR; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Kasri NN; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands.; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands.; Wood NW; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK.; Singleton AB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hardy J; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; UCL Dementia Research Institute, London, UK.; Whiting PJ; UCL Alzheimer's Research UK, Drug Discovery Institute, London, UK.; UCL Dementia Research Institute, London, UK.; Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Whitworth AJ; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Manzoni C; Department of Pharmacology, UCL School of Pharmacy, London, UK.; Ryten M; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Lewis PA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Department of Comparative Biomedical Sciences, Royal Veterinary College, LondonUK.; Plun-Favreau H; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Almramhi MM; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK/Department of Medical Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.; Storm CS; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Kia DA; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Coneys R; Department of Neurodegenerative Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Chhatwal BK; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Wood NW; Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Publisher: SAGE Publications Country of Publication: England NLM ID: 9509185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-0970 (Electronic) Linking ISSN: 13524585 NLM ISO Abbreviation: Mult Scler Subsets: MEDLINE