Aberrant expression of DUX4 in human muscle causes Facioscapulohumeral Muscular
dystrophy (FSHD) which affects about 1 in 8,333 individuals worldwide, yet the mechanism …

Studies of the pathogenic mechanisms underlying human myopathies and muscular
dystrophies often require animal models, but models of some human diseases are not yet …

Lung cancer is the deadliest cancer in the world. Almost all lung cancers originate from
epithelial tissues within the lung. Lung epithelium provides a barrier to inhaled particulate …

26 Diseases of striated muscle linked to intermediate filament (IF) proteins are associated
with 27 defects in the organization of the contractile apparatus and its links to costameres …

Multiple mutations in the fhl1 gene were identified in several human myopathies (X-linked
myopathy with postural muscle atrophy, reducing body myopathy, scapuloperoneal …

The ability to repair the sarcolemma following injury is critical for muscle cells, and impaired
membrane repair capacity is associated with inherited muscular dystrophy. Dysferlin is a …

Dystroglycan is a glycosylation-dependent extracellular matrix receptor implicated in a
subset of muscle diseases associated with mutations in known or putative …

ÉCOLE DOCTORALE : DES GÉNOMES AUX ORGANISMES Page 1 ÉCOLE DOCTORALE :
DES GÉNOMES AUX ORGANISMES UNIVERSITÉ D’ÉVRY VAL D’ESSONNE THÈSE DE …

The annual Dysferlin Conference [1] brings together scientists and clinicians working to
understand and develop a therapy for the dysferlinopathies, Limb Girdle Muscular Dystrophy …

Muscle is a multinucleated syncytial tissue that is established from the fusion singly
nucleated myoblasts to each other to create myotubes. Myoblasts can continue to fuse to …