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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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Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Matsuo M ; Nishida A | 2011Duchenne muscular dystrophy (DMD) is the most common and fatal muscle wasting disease caused by a loss of dystrophin protein. Currently, no effective treatmentfor DMD is available. One of the major therapeutic approaches is to convert from sever[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Portilho D ; Mendes F ; Costa M ; Butler Browne G ; Garcia J ; Savino W ; Mermelstein C | AFM-TELETHON | 2011Skeletal muscle differentiation is a multi-step process that begins with the commitment of mononucleated precursors that withdraw from cell cycle. These myoblasts elongate while aligning to each other, guided by the recognition between their mem[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Su JB ; Cazorla O ; Blot S ; Ait Mou Y ; Blanchard-Gutton N ; Barthelemy I ; Sambin L ; Carlos Sampedranos C ; Gouni V ; Unterfinger Y ; Aguilar P ; Thibaud JL ; Ghaleh B ; Bizé A ; Pouchelon JL ; Berdeaux A ; Lacampagne A ; Chetboul V ; Hittinger L | 2011Mutations in dystrophin gene result in loss of dystrophin protein in striated muscles leading to Duchenne muscular dystrophy (DMD) that remains an untreatable disease.Similarly, due to a mutation of the dystrophin gene leading to loss of the pro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dabiré H ; Barthelemy I ; Blanchard-Gutton N ; Sambin L ; Sampedranos CC ; Gouni V ; Unterfinger Y ; Aguilar P ; Thibaud JL ; Ghaleh B ; Bizé A ; Pouchelon JL ; Berdeaux A ; Blot S ; Chetboul V ; Hittinger L ; Su JB | 2011Mutations in the gene encoding dystrophin cause X-linked Duchenne muscular dystrophy (DMD) characterized by progressive muscle weakness and respiratory or cardiac failure. In golden retriever dogs, a mutation in dystrophin gene leads to golden r[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Yada E ; Pinto-Mariz F ; Negroni E ; Barthelemy I ; Blot S ; Savino W ; Voit T ; Mouly V ; Butler-Browne GS | 2011Duchenne muscular dystrophy (DMD) is an X-linked muscle wasting disease caused by the absence of functional dystrophin at the sarcolemma. There is currently no therapy for this disease, but stem cell-based cell therapy, eventually in combination[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lusakowska A ; Sulek-Piatkowska A ; Gogol A | AFM-TELETHON | 2011SBMA is rare, adult onset, X-linked recessive disease caused by CAG repeat expansion in AR gene. The main symptoms due to lower motor neuron involvement comprise slowly progressive weakness of extremity and bulbar muscles, fasciculation, cramps [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guglieri M ; Al-raqad M ; Chaouch A ; Eagle M ; Bourke J ; Straub V ; Lochmuller H ; Bushby K | 2011It has previously been reported that about 8% of female carriers of Duchenne and Becker muscular dystrophy (DMD/BMD) present clinical signs of the condition. Wefollowed a cohort of genetically confirmed DMD/BMD manifesting carriers at the Newcas[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lescroart F ; Hamou W ; Meilhac S ; Le Garrec JF ; Nicolas JF ; Buckingham M | 2011Despite the fact that cardiac and skeletal muscles are structurally and functionally distinct, we show that a subset of skeletal muscles share common progenitors with the heart.It is established that somitic mesoderm is not the only source of sk[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Arnaud E ; Zenker J ; de Preux Charles AS ; Stende C ; Roos A ; Médard JJ ; Tricaud N ; Weis J ; Suterc U ; Senderek J ; Crast R | 2011Neuromuscular disorders represent a relatively heterogeneous group of diseases affecting muscle function either directly (myopathies), or indirectly via nerve (neuropathies) or neuromuscular junction dysfunctions. Peripheral neuropathies, which [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Morbidoni V ; Urciuolo A ; Grumati P ; Cescon M ; Bonaldo P | 2011Collagen VI (ColVI) is an extracellular matrix protein composed by three chains (alpha1, alpha2 and alpha3), encoded by separate genes and forming a microfilamentous network in various tissues. ColVI is particularly abundant in skeletal muscles,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ruggiero F ; Charvet B ; Bader H ; Allard B ; Malbouyres M ; Monnot C ; Koch M | 2011An increasing number of muscular dystrophies have been linked to mutations in genes of extracellular matrix components. Collagen XXII is a marker of the myotendinousjunction but its function has not been investigated. We took advantage of the ze[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joubert R ; Jamet T ; Poulard K ; Guerchet N ; Tanniou G ; Relizani K ; Mandel JL ; Buj Bello A | 2011Myotubular myopathy (XLMTM) is a severe congenital disease that affects skeletal musculature, which is characterized by the presence of small myofibres with frequent occurrence of central nuclei. The disease is due to mutations in the MTM1 gene,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gineste C ; De Winter J ; Le Fur Y ; Pecchi E ; Vilmen C ; Cozzone PJ ; Granzier H ; Labeit S ; Ottenheijm O ; Go,din J ; Bendahan D | 2011INTRODUCTION: Nebulin is a giant protein expressed in skeletal muscle which plays a major role in both the organization of the sarcomeric structure and the regulation of cross-bridge cycling kinetics2,5. Indeed, reduced force production and calc[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Rumeur E ; Legrand B ; Giudice E ; Nicolas A ; Delalande O | 2011Duchenne muscular dystrophy (DMD) is caused by the genetic deficit of dystrophin, a large cytoskeleton protein of skeletal muscle included in the DGC sarcolemmalcomplex. Dystrophin complete deficit in DMD leads to cell degeneration induced by fr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Girard E ; Colak O ; Petrov K ; Krejci E | 2011Congenital myasthenic syndromes are characterized by muscle weakness during exercice. The mutations affects key events of the synaptic transmission but the consequence on the muscle contraction and the pathophysiology are poorly understood. Inde[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gulati S ; Sharma MC ; Yoganathan S ; Sarkar C | 2011Background: Congenital myopathies are a group of neuromuscular disorders, mostly occurring in childhood, chiefly in a familial fashion but occasionally occur in sporadic fashion. Through this paper, the authors present a clinicopathological anal[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Li Z ; Agbulut O ; Martins S ; Ferry A ; Hourde C ; Gao-Li J ; Blanc J ; Paulin D ; Xue Z | 2011Synemin is a linker protein, which form heteropolymer intermediate filaments with vimentin, desmin in the muscle or with neurofilaments, peripherins or GFAP in the nervous system. The synemin gene gives rise to three isoforms (H 180, M 150, L 41[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Blazquez L ; Aiastui A ; Pastoriza N ; Cano A ; Avril A ; Garcia L ; Lopez de Munain Arregui A | 2011Last years several mutations that can be corrected by the exon-skipping technique have been described in Duchenne dystrophy. In LGMD2A, however, all the mutations described to date do not seem to be good candidates for the RNA reparation technol[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Salort-Campana E ; Nguyen K ; Bernard R ; Sole G ; Niederhauser J ; Jouve E ; Fourquet I ; Fabre E ; Ollagnon E ; Sacconi S ; Echaniz-Laguna JA ; Duvocelle A ; Vial C ; Arne-Bes MC ; Desnuelle C ; Tranchant C ; Kuntzer T ; Ferrer X ; Besnier-Penisson I ; Pouget J ; Attarian S | AFM-TELETHON | 2011BACKGROUNDFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with contraction of the subtelomeric D4Z4 repeat array on chromosome 4q.Two allelic variations of 4qter have been described. These variations, 4[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ishmukhametova A ; KhauVan Kien P ; Thorel D ; Méchin D ; Vincent MC ; Humbertclaude V ; Tuffery-Giraud S ; Claustres M | 2011Background. Among the large rearrangements in the DMD gene, the predicted out-of-frame deletions and duplications of the exons 3 to 7 (del/dup3-7) present mainly twoparticular features in the widest DMD gene specific databases (www.dmd.nl: 150 d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sacconi S ; Féasson L ; Antoine JC ; Pêcheux C ; Bernard R ; Cobo AM ; Casarin A ; Salviati L ; Desnuelle C ; Urtizberea JA | 2011Mutations in the CRYAB gene, encoding _B-crystallin, cause distinct clinical phenotypes including isolated posterior polar cataract, myofibrillar myopathy, cardiomyopathy, or a multisystemic disorder combining all these features. Genotype/phenot[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Davignon L ; Cowling B ; Koutsopoulos O ; Zivkovic I ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stricker S ; Kossler N ; Mundlos S ; Kolanczyk M | 2011Neurofibromatosis type I (NF1) is an inheritable disease caused by mutations in the NF1 gene encoding a Ras-GAP protein that negatively regulates Ras signalling.Besides neuroectodermal malformations and tumours, the skeletal system is often affe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Morgane G ; Antoine M ; Camille L ; Cecile M ; Marc P ; Remi V | AFM-TELETHON | 2011Myotonic Dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that provokes functional alteration of CUG-binding proteins. Accordingly, several genes with misregulated alternate splicing of pre-mRNA have[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hnia K ; Amoasii L ; Tronchere H ; Tomczak K ; Schultz P ; Beggs AH ; Payrastre B ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]