Françoise Chapon

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al.|Nature Genetics|1998

Cited by 1.1k

Mutations in the Muscle SodiumChannel Gene (SCN4A) in 13 FrenchFamilies with Hyperkalemic PeriodicParalysis and ParamyotoniaCongenita: Phenotype to GenotypeCorrelations and Demonstration of thePredominance of Two Mutations

Emmanuelle Plassart, J Reboul, Claire-Sophie Rime et al.|European Journal of Human Genetics|1994

Cited by 56

Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies

Anne Caron, Françoise Chapon, Christine Berthelin et al.|Neuromuscular Disorders|1993

Cited by 20

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

Françoise Chapon, P Diraison, B Lechevalier et al.|Journal of Neurology Neurosurgery & Psychiatry|1996

Cited by 18Open Access

Letters to the Editor plays a major part in the perception of intra- oral sensation, whereas facial sensation pro- jects to the medullary portion of this nucleus.

New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease

Philippe Latour, Anne Fabreguette, Catherine Ressot et al.|European Neurology|2008

Cited by 17

Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.

Françoise Chapon

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