Chaouch, Malika

Top Publications

Top Publications Authored or Co-Authored by "Chaouch, Malika"

• 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
• Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

  Nature, Volume 359, No. 6393, Year 1992, Citations 262
• Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity

  Nature Genetics, Volume 10, No. 2, Year 1995, Citations 197
• Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kda dystrophin-associated glycoprotein maps to chromosome 13q12

  Human Molecular Genetics, Volume 2, No. 9, Year 1993, Citations 94
• 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