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Human Mutation|July 5, 2001
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesM L Mostacciuolo, E Righetti, M Zortea, et al.Neurology|September 11, 2009
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohortN Ticozzi, V Silani, A L LeClerc, et al.Neurology|July 1, 2011
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutationsJ M Polke, M Laurá, D Pareyson, et al.European Journal of Neurology|October 14, 2017
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathyA Cortese, M Laurà, C Casali, et al.Cerebellum (London, England)|December 6, 2013
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxiasA Matilla-Dueñas, T Ashizawa, A Brice, et al.Pageof 16