Vallat, Jean Michel

Top Publications

Top Publications Authored or Co-Authored by "Vallat, Jean Michel"

• 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
• INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

  New England Journal of Medicine, Volume 365, No. 25, Year 2011, Citations 237
• Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

  Neurology, Volume 45, No. 11, Year 1995, Citations 128
• Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

  Neurology, Volume 67, No. 4, Year 2006, Citations 102
• 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