Multiplex Western blotting system for the analysis of muscular dystrophy proteins, Am J Pathol, vol.154, pp.1017-1039, 1999. ,
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy, Neurology, vol.57, pp.271-279, 2001. ,
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B, Nat Genet, vol.20, pp.37-42, 1998. ,
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases, Hum Mutat, vol.15, pp.86-94, 2000. ,
URL : https://hal.archives-ouvertes.fr/inserm-00143606
UMD (Universal Mutation Database): 2005 update, Hum Mutat, vol.26, pp.184-91, 2005. ,
URL : https://hal.archives-ouvertes.fr/inserm-00143605
Making sense of the limb-girdle muscular dystrophies, Brain, vol.122, pp.1403-1423, 1999. ,
Ins and outs of therapy in limb girdle muscular dystrophies, Int J Biochem Cell Biol, vol.39, pp.1608-1632, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-01610044
Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro, J Biol Chem, vol.281, pp.17092-17100, 2006. ,
Clusters of mutations from transient hypermutability, Proc Natl Acad Sci, vol.102, pp.12849-54, 2005. ,
Dysferlin in Membrane Trafficking and Patch Repair, Traffic, 2007. ,
Symptomatic dysferlin gene mutation carriers: characterization of two cases, Neurology, vol.68, pp.1284-1293, 2007. ,
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy, Nat Genet, vol.20, pp.31-37, 1998. ,
Anticipating the 1,000 dollar genome, Genome Biol, vol.7, p.112, 2006. ,
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies, Hum Mutat, vol.26, p.165, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-01681874
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes, Arch Neurol, vol.64, pp.1176-82, 2007. ,
Clinical heterogeneity in dysferlinopathy, Intern Med, vol.41, pp.532-538, 2002. ,