Nathalie Deburgrave

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

F. Daoud, Nathalie Angeard, B. Demerre et al. · Human Molecular Genetics · 2009 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Primary adhalinopathy (α‐sarcoglycanopathy)

B. Eymard, Norma B. Romero, France Leturcq et al. · Neurology · 1997 · 134 citations

Medicine, Genetics, Molecular Genetics +15

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

Pervin Dinçer, France Leturcq, Isabelle Richard et al. · Annals of Neurology · 1997 · 120 citations

Medicine, Genetics, Molecular Genetics +15

Revised spectrum of mutations in sarcoglycanopathies

Madiha Trabelsi, Niloufar Kavian, Fatma Daoud et al. · European Journal of Human Genetics · 2008 · 85 citations

Life Sciences, Genetics, Molecular Genetics +9

Multitissular involvement in a family with <i>LMNA</i> and <i>EMD</i> mutations

Rabah Ben Yaou, Annick Toutain, Takuro Arimura et al. · Neurology · 2007 · 69 citations

Medicine, Genetics, Molecular Genetics +13