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The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

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第一作者： Niccolo E,Mencacci

第一单位： Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

作者： Niccolo E,Mencacci ^[1] ; Léa,R'bibo ^[1] ; Sara,Bandres-Ciga ^[2] ; Miryam,Carecchio ^[3] ; Giovanna,Zorzi ^[4] ; Nardo,Nardocci ^[4] ; Barbara,Garavaglia ^[5] ; Amit,Batla ^[6] ; Kailash P,Bhatia ^[6] ; Alan M,Pittman ^[1] ; John,Hardy ^[1] ; Anne,Weissbach ^[7] ; Christine,Klein ^[7] ; Thomas,Gasser ^[8] ; Ebba,Lohmann ^[8] ; Nicholas W,Wood ^[9]

作者单位： Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK. ^[1] Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK, Department of Physiology and Institute of Neurosciences Federico-Olóriz, Centro de Investigaciones Biomedicas (CIBM), University of Granada, Granada 18071, Spain. ^[2] Neuropediatrics Unit, IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy, Molecular Neurogenetics Unit, IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy. ^[3] Neuropediatrics Unit, IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy. ^[4] Molecular Neurogenetics Unit, IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy. ^[5] Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London WC1N 3BG, UK. ^[6] Institute of Neurogenetics, University of Lübeck, Lübeck 23538, Germany and. ^[7] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany. ^[8] Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK, n.wood@ucl.ac.uk. ^[9]