Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

I Richard, O Broux, V Allamand, F Fougerousse… - Cell, 1995 - cell.com
… (Richard et al., 1994) and, more precisely, on three YACs (774G4, 926G10, and 923G7)
localized in this region, between D15S512 and … R., Richard, I., Vainzof, M., Fougerousse, F …

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

…, T Strachan, S Keers, E Vafiadaki, M Lako, I Richard… - Nature …, 1998 - nature.com
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited
progressive muscle disorders that affect mainly the proximal musculature, with evidence for at …

Psychosocial risk factors for chronic low back pain in primary care—a systematic review

A Ramond, C Bouton, I Richard, Y Roquelaure… - Family …, 2011 - academic.oup.com
Background. Low back pain (LBP) is a major public health problem, often encountered in
primary care. Guidelines recommend early identification of psychosocial factors that could …

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

…, V Straub, G Storey, C Pollitt, I Richard… - Human molecular …, 2001 - academic.oup.com
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by
skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD …

[PDF][PDF] Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

…, L Parent, F Baas, K Mizuta, N Kamata, I Richard… - The American Journal of …, 2010 - cell.com
The recently described human anion channel Anoctamin (ANO) protein family comprises at
least ten members, many of which have been shown to correspond to calcium-activated …

The kinase domain of titin controls muscle gene expression and protein turnover

…, SM Hughes, S Marchand, T Sejersen, I Richard… - Science, 2005 - science.org
The giant sarcomeric protein titin contains a protein kinase domain (TK) ideally positioned to
sense mechanical load. We identified a signaling complex where TK interacts with the zinc-…

[PDF][PDF] Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

…, S Labeit, C Witt, L Peltonen, I Richard… - The American Journal of …, 2002 - cell.com
Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked
to chromosome 2q31. The linked region includes the giant TTN gene, which encodes the …

β–sarcoglycan: Characterization and role in limb–girdle muscular dystrophy linked to 4q12

…, N Bourg, Y Sunada, V Allamand, J Meyer, I Richard… - Nature …, 1995 - nature.com
β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral component of
the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan cDNA and …

Evaluation of the cytotoxicity effect of dimethyl sulfoxide (DMSO) on Caco2/TC7 colon tumor cell cultures

G Da Violante, N Zerrouk, I Richard… - Biological and …, 2002 - jstage.jst.go.jp
MATERIALS AND METHODS Chemicals DMSO was obtained from Sigma (St Quentin
Fallavier, France).[14C] mannitol was purchased from NEN-Life Sciences (Les Ulis, France). All …

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

S Baghdiguian, M Martin, I Richard, F Pons, C Astier… - Nature medicine, 1999 - nature.com
ARTICLES fibers positive for the developmental myosin heavy chain, a regeneration marker,
in LGMD2A was 10% that determined in Duchenne muscular dystrophy (Table). Although …