Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

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作者： Stefania,Scarlino ^[1] ; Teuta,Domi ^[1] ; Laura,Pozzi ^[1] ; Alessandro,Romano ^[1] ; Giovanni Battista,Pipitone ^[2] ; Yuri Matteo,Falzone ^[1] ; Lorena,Mosca ^[3] ; Silvana,Penco ^[4] ; Christian,Lunetta ^[4] ; Valeria,Sansone ^[5] ; Lucio,Tremolizzo ^[5] ; Raffaella,Fazio ^[6] ; Federica,Agosta ^[7] ; Massimo,Filippi ^[3] ; Paola,Carrera ^[8] ; Nilo,Riva ^[3] ; Angelo,Quattrini ^[8]

作者单位： Experimental Neuropathology Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy. ^[1] Laboratory of Clinical Molecular Biology, Unit of Genomics for human disease diagnosis, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milan, Italy. ^[2] Neurology Unit, San Raffaele Scientific Institute, 20132 Milan, Italy. ^[3] Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, 20132 Milan, Italy. ^[4] NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Milan 20132, Italy. ^[5] Department Biomedical Sciences of Health, University of Milan, 20132 Milan, Italy. ^[6] Neurology Unit, "San Gerardo" Hospital and University of Milano-Bicocca, 20900 Monza, Italy. ^[7] Neuroimaging Research Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy. ^[8] Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy. ^[9] Vita-Salute San Raffaele University,20132 Milan, Italy. ^[10]

关键词 CMT distal SMA genetics hereditary neuropathy lower motor neuron syndrome motor neuron disease nerve neuropathy next generation sequencing survival