S. Llense

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Nathalie Deburgrave, Fatma Daoud, S. Llense et al. · Human Mutation · 2006 · 122 citations

Revised spectrum of mutations in sarcoglycanopathies

Madiha Trabelsi, Niloufar Kavian, Fatma Daoud et al. · European Journal of Human Genetics · 2008 · 84 citations · Full text

Somatic Variant, Genetic Disorder, Medicine +5

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

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Christophe Béroud, Alain Carrié, Chérif Beldjord et al. · Neuromuscular Disorders · 2003 · 59 citations

Rare Diseases, Mendelian Disorder, Dmd Gene +10

Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

Francesco Muntoni, Ewa J Lichtarowicz-Krynska, Caroline A. Sewry et al. · Neuromuscular Disorders · 1998 · 45 citations

Limb-girdle Muscular Dystrophy, Skeletal Muscle, Early Presentation