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Congrès: 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) (9-13 mai 2011)
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Documents disponibles provenant de ce congrès (480)
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bangratz M ; Sarrazin N ; Davoine CS ; Fontaine B ; Devaux J ; Nicole S | AFM-TELETHON | 2011Schwartz-Jampel syndrome (SJS) is a recessive disorder characterized by permanent muscle stiffness and spontaneous activity in the rest electromyogram that appears during childhood and slowly progress until adulthood. SJS results from hypomorphi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Agbulut O ; Chourbagi O ; Xue Z ; Paulin D | AFM-TELETHON | 2011Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Multiple associations of intermediate filament proteins form a network to increa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Moraux A ; Costiou P ; Moullec S ; Servais L ; Le Guiner C ; Montus M ; Moullier P ; Fromes Y ; Voit T | AFM-TELETHON | 2011Golden Retriever Muscular Dystrophy (GRMD) is a very suitable animal model related to dystrophin deficiency. The phenotype of dogs is very close to the disease pattern in humans. Innovative therapies are thus being tested on dogs before a transf[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Erratico S ; Belicchi M ; Razini P ; Farini A ; Meregalli M ; Villa C ; Bresolin N ; Torrente Y | 2011Adult stem cells reside in all tissues, where they maintain homeostatic conditions and respond to injuries. These cells are regulated and supported by the surrounding microenvironment, called stem cell "niche", composed by cellular and molecular[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Canal A ; Ollivier G ; Decostre V ; Josserand E ; Alberti C ; Taoui I ; Simon D | AFM-TELETHON | 2011Unless neuromuscular maturation during growth is a key element, it has been poorly documented with respect to the biological development of children. The strength generation capacity of the muscles is one of the main maturation features. Most of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Beley C ; Gruszczynski C ; Ziaei S ; Griffith G ; Precigout G ; Vulin A ; Dreyfus P ; Voit T ; Garcia L | 2011The analysis of DMD/BMD databases, which include patient records have allowed to assess the proportion of DMD patients that is eligible for exon skipping strategies as well as to appraise the impact of various exon skipping events. Among them, t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Boyer F ; Barbe C ; Calmus A ; Reveillere C ; Hardouin JB ; Tiffreau V ; Richard I ; Rohellec EL ; Bassez G ; Minh-Muzeaux S ; Novella JL ; Wolak A ; Drame M ; Pereon Y ; Morrone I ; Jolly D | 2011Health related quality of life (HRQoL) measures estimate interventions in health efficiency.This paper reports the first indispensable phase for the construction and validation of a HRQoL measure in patients with slowly neuromuscular disease (NM[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jaspers R ; Testerink J ; Krishnan R ; Offringa C ; Bagowski C ; Van der Laarse W | 2011In vivo immobilization of muscle at extended length, stimulates IGF-1 expression and induces hypertrophy, however, the mechanisms underlying the high muscle strain induced IGF-1 expression and hypertrophy are unknown. The aim of this study was t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cassar-Malek I ; Delavaud A ; Gentes G ; Picard B | 2011In a previous study, we have identified the canonical Wnt signaling pathway as a putative target for inactivation of myostatin (MSTN) in mice. Here1 we have analysed the Mouse WNT signaling pathway in MSTN-null vs wild-type mice (n=5 animals/gro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dibenedetto S ; Cluet D ; Drouin E ; Thomas JL ; Gangloff YG ; Schaeffer L ; Zoli M ; Rudkin B ; Ciciliot S ; Ding YD ; Yuan CG ; Schiaffino S | 2011Calcineurin A(CnA), a serine-threonine phosphatase, has been identified as a crucial mediator for reversing muscle degeneration due to its role in the control of satellite cell differentiation as well as myofiber growth and maturation. This has [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sandell S ; Palmio J ; Udd B ; Mahjneh I | AFM-TELETHON | 2011We have previously reported clinical, neuropathological and genetic findings in a large Finnish family with 7q36-associated autosomal dominant myopathy classified now as LGMD1D. After publishing we have discovered four more Finnish families with[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Scaal M | AFM-TELETHON | 2011The dermomyotome is the dorsal compartment of the somite which gives rise to multiple cell fates including skeletal muscle, connective tissue, and endothelia. It consists of a pseudostratified, roughly rectangular epithelial sheet, the margins o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Suominen T ; Bachinski L ; Raheem O ; Haapasalo H ; Kress W ; Krahe R ; Udd B | AFM-TELETHON | 2011Myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n repeat expansion in the first intron of ZNF9 gene. The smallest reported expansion in leucocyte DNA with clinical phenotype consists of (CCTG)75 repeats. The repeat region is complex with bo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Medja F ; Huguet A ; Vignaud A ; Ferry A ; Etienne M ; Butler Browne G ; Puymirat J ; Gourdon G ; Furling D | AFM-TELETHON | 2011Myotonic dystrophy type I (DM1) is a dominant disease caused by the expansion of an unstable CTG repeat in the 3' non-coding region of the DMPK gene. Transgenic mice carrying 45kb of the human DM1 locus with 300 CTG repeats were developed by G. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bartoli M ; Delague V ; Bourgeois P ; Krahn M ; Cossee M ; Orrhant L ; Leturcq F ; Chelly J ; Guittard C ; Beroud C ; Allamand V ; Bonne G ; Nelson I ; Richard P ; Voit T | 2011Currently, in most laboratories, molecular explorations in neuromuscular disorders (NMDs) are based on a differential molecular genotyping by a complex and time consuming gene by gene approach. As a consequence, it is estimated that 35-50 % of p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mohamed Ismail H ; Petterman O ; Dorchies O ; Ruegg U | AFM-TELETHON | 2011Duchenne muscular dystrophy (DMD) is a progressive disease characterized by the absence of dystrophin due to a defect in the p21 band of the X chromosome. Lack of dystrophin expression causes muscle degeneration by a mechanism that remains elusi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lenglet T ; Stojkovic T ; Maisonobe T ; Kolev I ; Wardi R ; Vicart S ; Dubourg O ; Pradat PF | 2011Objective : To report a case of Dropped Head Syndrome (DHS) with initial presentation suggestive of amyotrophic lateral sclerosis (ALS) and that led to the diagnosis of Centronuclear Myopathy (CM).Background : Isolated or prominent weakness of c[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Biondi O ; Villemeur M ; Marchand A ; Chrétien F ; Bourg N ; Gherardi RK ; Richard I ; Authier FJ | AFM-TELETHON | 2011Dysferlinopathies are inherited myopathies characterized by a deficiency in dysferlin, a protein involved in plasma membrane repair process. Various clinical phenotypes/ modes of presentation are described, including LGMD2B, Myoshi-type distal m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Xue Z ; Martins S ; Agbulut O ; Larcher JC ; Paulin D ; Li Z | AFM-TELETHON | 2011The mammalian synemin is a very unique intermediate filament (IF) gene encoding three isoforms (H, M and L) achieved by alternative mRNA splicing, exon skipping and an open reading frame shift. Synemin is a desmin-related myopathies (DRM)-associ[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Di Fulvio S ; Azakir B ; Sinnreich M | AFM-TELETHON | 2011Mutations in the dysferlin gene lead to limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi Myopathy and distal anterior compartment myopathy. Dysferlin is a large type II transmembrane protein composed of seven C2 domains and two dysferlin[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carinne R ; Lostal W ; Bartoli M ; Bourg N ; Krahn M ; Pryadkina M ; Borel P ; Suel L ; Roche J ; Stockholm D ; Bloch R ; Bashir R ; Richard I | 2011Carinne Roudaut1, William Lostal1, Marc Bartoli4, Nathalie Bourg1, Martin Krahn4, Marina Pryadkina1, Perrine Borel1, Laurence Suel1, Joseph Roche2, Daniel Stockholm1 Robert Bloch2, Nicolas Levy4, Rumaisa Bashir3, Isabelle Richard11) Genethon, CN[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cardani R ; Greco S ; Sarra-Ferraris G ; Bugiardini E ; Meola G ; Martelli F | 2011Myotonic dystrophy type 1(DM1) is a dominantly inherited multisystemic disorder affecting skeletal muscle, heart, eye, and the endocrine system. DM1 is caused by expansion of a CTG repeat in the 3'UTR of DMPK gene. This genetic lesion leads to t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Moore C ; Mitchell A ; La Riviere T ; Lipscombe L ; Piggott R ; Parkin C ; Miller G ; Winder S | 2011Dystroglycan (DG) is a transmembrane glycoprotein, which in skeletal muscle forms a central role in the dystrophin-associated glycoprotein complex (DGC). Thiscomplex links dystrophin to the extracellular matrix, helping to provide stability to m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cherel Y ; Larcher T ; François V ; Le Guiner C ; Deschamps JY ; Guigand L ; Dutilleul M ; Betti E ; Montus M ; Servais L ; Voit T ; Moullier P | 2011In Duchenne Muscular Dystrophy (DMD) the selective removal by exon skipping of exons flanking an out-of frame mutation in the dystrophin messenger can result in in-frame mRNA transcripts that are translated into shorter but functionally active d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mercier S ; Toussaint A ; Beugnet C ; De Barace C ; Toutain A ; Raynaud M ; Marcorelles P ; Pasquier L ; Chauvel-Lebreton J ; Benyaou R ; France L ; Chelly J ; Desguerre I | 2011Aim: to define molecular basis underlying different clinical phenotypes and of symptomatic DMD carriers at pediatric age.Methods: 26 cases of early symptomatic DMDcarriers followed in the french neuromuscular network were investigated. We report[...]