Malika Chaouch

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

Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei Kozlov et al. · The American Journal of Human Genetics · 2002 · 551 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Kiichiro Matsumura, F.M.S. Tomé, H. Barry Collin et al. · Nature · 1992 · 253 citations

Medicine, Genetics, Pediatrics +9

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Valérie Delague, Arnaud Jacquier, Tarik Hamadouche et al. · The American Journal of Human Genetics · 2007 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Lorena Travaglini, Francesco Brancati, Jennifer L. Silhavy et al. · European Journal of Human Genetics · 2013 · 85 citations · Full text

Life Sciences, Genetics, Pediatrics +13

Absence of γ‐sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

Daniel Jung, France Leturcq, Yoshihide Sunada et al. · FEBS Letters · 1996 · 53 citations

Medicine, Genetics, Molecular Biology +13