전남대학교 중앙도서관

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

학술저널

issue: Neurology [Neurology] 2023 Jan 31; Vol. 100 (5), pp. e543-e554. Date of Electronic Publication: 2022 Oct 26.
Author: 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.
DB Label: Database : MEDLINE

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