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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

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第一作者: Sophie,Tezenas du Montcel
第一单位: 1 Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, F-75013, Paris, France2 INSERM, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, F-75013, Paris, France3 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Biostatistics Unit, Paris, F-75013, France sophie.tezenas@psl.aphp.fr alexis.brice@upmc.fr.
作者单位: 1 Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, F-75013, Paris, France2 INSERM, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, F-75013, Paris, France3 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Biostatistics Unit, Paris, F-75013, France sophie.tezenas@psl.aphp.fr alexis.brice@upmc.fr. [1] 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France. [2] 6 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. [3] 7 Department of Neurology, University of Utah, Salt Lake City, USA. [4] 8 Department of Neurology, University of Tokyo, Graduate School of Medicine, Tokyo, Japan. [5] 9 University of Torino, Department of Medical Sciences, and Medical Genetics Unit, Az. Osp. 'Città della Salute e della Scienza', Torino, Italy. [6] 5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France. [7] 10 Institute of Psychiatry and Neurology Warsaw, Sobieskiego 9, 02-957 Warsaw, Poland. [8] 11 Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany12 German Centre of Neurodegenerative Diseases (DZNE), Tübingen, Germany. [9] 13 SOSD Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico 'Carlo Besta', Milan, Italy. [10] 14 Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radbound University Medical Centre, Nijmegen, The Netherlands. [11] 15 Neurologic Division I, Department of Neuroscience and Mental Health, AOU Città della Salute e della Scienza, Torino, Italy. [12] 16 Institute of Neurology, Department of Molecular Neuroscience, UCL, Queen Square, London, UK. [13] 17 Department of Neurological Sciences, Federico II University, Naples, Italy. [14] 18 Department of Neurology, St. Josef Hospital, University Hospital of Bochum, Bochum, Germany. [15] 19 Department of Neurology, University Hospital of Bonn, Bonn, Germany. [16] 20 Department of Neurology, University Hospital 'Marqués de Valdecilla', UC, IDIVAL and CIBERNED, 39008 Santander, Spain. [17] 21 Department of Neurology, ULB-Hôpital Erasme, Université Libre de Bruxelles, CP 231, Campus Plaine, ULB, Brusssels, Belgium. [18] 22 Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. [19] 23 Department of Medical Genetics, and Szentagothai Research Centre, University Pécs, Hungary. [20] 24 Department of Neurology, University Clinic Essen, University of Duisburg-Essen, Essen, Germany. [21] 25 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, and U.O. Medical Genetics of IRCCS AOU S. Martino Institute, Genova, Italy. [22] 26 Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, Florida, USA. [23] 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France. [24] 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France sophie.tezenas@psl.aphp.fr alexis.brice@upmc.fr. [25] 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France. [26]
DOI 10.1093/brain/awu174
PMID 24972706
发布时间 2022-12-07
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Brain : a journal of neurology

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