Verny, Christophe

Top Publications

Top Publications Authored or Co-Authored by "Verny, Christophe"

• A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

  Human Molecular Genetics, Volume 10, No. 4, Year 2001, Citations 245
• Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

  Neurology, Volume 67, No. 4, Year 2006, Citations 102
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

  Genetics in Medicine, Volume 22, No. 11, Year 2020, Citations 89
• Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

  Brain Communications, Volume 3, No. 2, Article fcab063, Year 2021, Citations 37