Sylvie Marchand

TL;DR: Using a positional cloning approach, the gene for a form of limb-girdle muscular dystrophy that was previously mapped to chromosome 2p13 (LGMD2B) is identified and the proposed name `dysferlin' combines the role of the gene in producing muscular Dystrophy with its C. elegans homology.

TL;DR: In this paper, a protein kinase domain (TK) was identified where TK interacts with the zinc-finger protein nbr1 through a mechanically inducible conformation.

TL;DR: Immunohistochemical analysis using two exon-specific antibodies directed to the M-line region of titin demonstrated the specific loss of carboxy-terminal titin epitopes in the TMD muscle samples that were studied, thus implicating a functional defect of theM-line titin in the genesis of the T MD disease phenotype.

TL;DR: The aim was to delineate the phenotype and determine the genetic defects in two consanguineous families with an early‐onset, recessive muscle and cardiac disorder.

TL;DR: Evans blue staining of muscle fibers reveals that the pathological process due to calpain 3 deficiency is associated with membrane alterations, and apoptosis-associated perturbation of the IκBα/nuclear factor κB pathway as seen in LGMD2A patients is revealed.