Kassouri, Nadia

Top Publications

Top Publications Authored or Co-Authored by "Kassouri, Nadia"

• 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
• 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
• Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa

  Annals of Human Genetics, Volume 72, No. 5, Year 2008, Citations 29
• Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 14