Lévy, Nicolas

Top Publications

Top Publications Authored or Co-Authored by "Lévy, Nicolas"

• Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

  American Journal of Human Genetics, Volume 70, No. 3, Year 2002, Citations 565
• Immortalized pathological human myoblasts: Towards a universal tool for the study of neuromuscular disorders

  Skeletal Muscle, Volume 1, No. 1, Article 34, Year 2011, Citations 233
• The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene

  Neuromuscular Disorders, Volume 13, No. 1, Year 2003, Citations 92
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89
• PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

  Brain, Volume 138, No. 6, Year 2015, Citations 60