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Myology 2011 (9-13 mai 2011; Lille) | 05/2011Ces dernières années, des essais cliniques de "chirurgie du gène" ont démarré dans la myopathie de Duchenne. Myology 2011 a été l'occasion de faire un point sur les premiers résultats et d'évoquer de nouveaux plans de bataille.VLM
Myology 2011 (9-13 mai 2011; Lille) | 05/2011On a coutume d'écrire que les essais thérapeutiques se multiplient, mais après Myology 2011, on se dit que ce sont des résultats qui commencent à foisonner. Un bond en avant remarqué par les experts et porteur d'un immense espoir pour les malades.Article
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Nouel E ; Albertini L | 01/2011Pour plus d'informations : 2011-année des patients et de leurs droitsArticle
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Siala O ; Fakhfakh F | 2011In our study, we analysed the colocalisation of exonic SNPs in LAMA2 gene related to the MDC1A form of congenital muscular dystrophy with exonic splicing enhancers (ESEs). Then, we searched the effect of allelic change on ESEs efficacy. The LAMA[...]Article
AFM-TELETHON 2011Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous muscular dystrophies grouped together on the basis of common clinical features: they all primarily and predominantly affect proximal muscles. Gene transfer to the m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Basco D ; Nicchia GP ; D’Alessandro A ; Zolla L ; Svelto M ; Frigeri A | 2011Aquaporin-4 (AQP4) is a water channel expressed at the sarcolemma of fast-twitch skeletal muscle fibers, whose expression is altered in several forms of muscular dystrophies. However, little is known concerning the physiological role of AQP4 in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Barthelemy I ; Barrey E ; Aguilar P ; Uriarte A ; Le Chevoir M ; Thibaud JL ; Voit T ; Blot S ; Hogrel JY | 2011Because of its clinical similarities with Duchenne muscular dystrophy, the GRMD (Golden Retriever Muscular Dystrophy) model is used in pre-clinical trials to assess functional effects, notably on locomotion. Accelerometry has been validated as a[...]Article
Collagen VI-myopathies, caused by mutations in any of the three genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy at each end of the spectrum. The sever[...]Article
Lattanzi G ; Benedetti S ; Bertini E ; Boriani G ; Mazzanti L ; Novelli G ; Pasquali R ; Pini A ; Politano L | 2011Accès au résumé PubMed / to PubMed abstractLivre
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Béré E ; Benoit M ; Vissière D ; Duchêne J ; Hogrel JY ; Servais L | 2011There is currently no standardized method to assess upper limb activity in non-ambulatory patients. Actimetry, with use of motion sensors, are probably the most promising method. Indeed, it provides continuous monitoring of specific part of body[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Marion P ; Petrof BJ ; Coisy-Quivy M ; Koechlin-Ramonatxo C ; Hugon G ; Lacampagne A ; Matecki S | 2011Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disorder, affecting 1 in 3500 male births. Skeletal muscle lacking dystrophin exhibit mitochondrial function abnormalities, including a reduced capacity for oxidative phosphorylation (E[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; García-Melero A ; Lopez-Alemany R ; Roig-Borrellas A ; Puigivila M ; Barrère-Lemaire S | 2011Acute Myocardial Infarction causes cardiomyocytes cell death in the ischemic ventricle, followed by a wound healing response, which includes migration of inflammatory cells into the affected myocardium, extracellular matrix degradation, fibrobla[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chaillou T ; Koulmann N ; Simler N ; Meunier A ; Gregoire C ; Chapot R ; Serrurier B ; Beaudry M ; Bigard X | AFM-TELETHON | 2011IntroductionSkeletal muscle is susceptible to injury after either direct trauma, prolonged physical exercise including eccentric contractions, or resulting from indirect causessuch as neuromuscular diseases. A delay in the muscle regeneration pr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Escobar Cedillo RE ; Fernandez MI ; Hernandez-Hernandez O ; Cisneros B ; Magana J | 2011Myotonic dystrophy type 1 (DM1), the most common form of muscular dystrophy in adults (1/8,000 individuals), is an inherited, autosomal dominant disease characterizedmainly by myotonia, progressive muscle weakness (especially of distal limbs, ne[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bertazzi D ; Laporte J ; Payrastre B ; Friant S | 2011Myotubularin MTM1 is a phosphoinositide 3-phosphatase with specificity towards PtdIns3P (Phosphatidylinositol 3-Phosphate) and PtdIns(3,5)P2 (Phosphatidylinositol3,5-bisPhosphate). Different mutations in the MTM1 gene cause a severe congenital m[...]Article
Myotubularin MTM1 is a phosphoinositide 3-phosphatase with specificity towards PtdIns3P (Phosphatidylinositol 3-Phosphate) and PtdIns(3,5)P2 (Phosphatidylinositol 3,5-bisPhosphate). Different mutations in the MTM1 gene cause a severe congenital [...]Article
Conte TC ; Marlow G ; Boycott KM ; Saleki K ; Inoue H ; Kroon J ; Itakura M ; Robitaille Y ; Parent L ; Baas F ; Mizuta K ; Kamata N ; Richard I ; Linssen W ; Mahjneh I ; de Visser M ; Bashir R ; Brais B | AFM-TELETHON | 2011Our study of a large cohort of French-Canadian cases of late-onset recessive limb-girdle muscular dystrophies has demonstrated that there are still a large number of mutated genes to be uncovered that cause LGMD in this population. Some of these[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wary C ; Thibaud JL ; Naulet T ; Monnet A ; Blot S ; Carlier PG | 2011Altered ratios of phosphate metabolites, observed in 31P NMR spectroscopy (NMRS) of Duchenne patients, were recognized as potential markers of disease years ago1. The increase of therapeutic trials in DMD and in its closest model, the GRMD dog, [...]Article
AFM-TELETHON 2011Antisense oligonucleotides (AOs) are able to modulate the splicing of the dystrophin pre-mRNA to correct the aberrant reading frame resulting from mutations in the dystrophin gene and thereby lead to the production of functional amounts of dystr[...]Article
Zamorano-Valdebenito I ; Urzúa R ; Hughes-García R | 2011Application of the Motor Function Measure (MFM) scale in dysferlinopathy: preliminary results. The Motor Function Measure (MFM) scale has been designed for the assessment of motor function and monitoring weakness in neuromuscular disorders. It[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Yu H ; Voisin V ; Vianello S ; He X | 2011A potential strategy to treat Duchenne muscular dystrophy (DMD) is to compensate the absence of dystrophin by up-regulation of the homologous protein, utrophin. An approach to up-regulate utrophin expression and improve dystrophic phenotype in d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ishmukhametova A ; Khau Van Kien P ; Thorel D ; Méchin D ; Vincent MC ; Humbertclaude V ; Tuffery-Giraud S ; Claustres M | 2011Spanning more than 2Mb on Xp21.1-p21.2, the DMD gene is the largest known with a complex mutational spectrum. Around 70% of the mutations are large deletions and duplications, the remaining being point mutations and small lesions. Most of the cu[...]Article
Dystroglycan (DG) is a receptor for several extracellular matrix proteins, including laminin, perlecan and agrin, that provides structural stability to the plasma membrane [1]. In skeletal muscle cells, DG is the central component of the dystrop[...]Article
Hereditary inclusion body myopathy (HIBM) is a myopathy caused by recessive mutations in the UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase gene (GNE), encoding the key enzyme in the biosynthetic pathway of sialic acid. In an at[...]Article
Subsets of patients with a large number of genetic disorders have disease due to a premature stop (nonsense) mutation in the coding sequence of a protein. Ataluren is an investigational drug designed to overcome the deleterious effects of nonsen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chelh I ; Delavaud A ; Gentes G ; Picard B ; Cassar-Malek I | 2011Myostatin (MSTN), a member of the TGF-_ family, is involved in muscle development and the maintenance of muscle mass homeostasis. We recently identified severalgenes and proteins, which are involved in the protection of cells against apoptosis t[...]Article
In order for NMR imaging to detect early pathological changes with precision and reproducibility in diseased muscles, one needs quantitative imaging protocols. Unfortunately, inhomogeneities of static and rotating (B1) transmit and receive field[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bierinx AS ; Cochon L ; Bastide B | 2011Satellite cells are the unique cell population able to incorporate myofibres in order to insure muscular growth and hypertrophy mechanisms. Decrease of their number or alteration of their capacities to proliferate and differentiate may strongly [...]Article
Gueneau L ; Crozet C ; Chikhaoui K ; Nelson I ; Beuvin M ; Demay L ; Richard P ; Romero NB ; Stojkovic T ; Eymard B ; T.Voit ; Ben Yaou R ; Bonne G ; Benyaou R | AFM-TELETHON | 2011The FHL1 gene, localized on the X chromosome, encodes the Four and a Half LIM proteins 1, proteins belonging to a protein family containing LIM domains (Lin-11, Isl-1, Mec3), that are highly conserved sequences constituted by two zinc fingers in[...]Article
Halter J ; Schüpbach WMM ; Casali C ; Elhasid R ; Fay K ; Hammans S ; Illa I ; Kappeler L ; Krähenbühl S ; Lehmann T ; Mandel H ; Marti R ; Mattle H ; Orchard K ; Savage D ; Sue CM ; Valcarcel D ; Gratwohl A ; Hirano M | 2011Accès au résumé PubMed / to PubMed abstract 02/11/2010 - Encéphalopathie myo-neuro-gastrointestinale (MNGIE) : première conférence de consensus sur la transplantation allogénique de cellules souches hématopoïétiques L'encéphalopath[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Meola G | 2011Myotonic dystrophy type 1 and 2 are variable autosomal dominant inherited predominantly neuromuscular disorders with multisystemic manifestations including cerebral involvement. Recent studies of central nervous system in myotonic dystrophies an[...]Article
Second International Workshop for Glycosylation Defects in Muscular Dystrophies (11-12 November, 2010; Charlotte, USA) ; Chan YM ; Brown SC ; Lu Q | 2011Accès au résumé PubMed / to PubMed abstractArticle
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Goicoechea M ; Garcia Bragado F ; Otaegui D ; Aiastui A ; Pastoriza N ; Toral I ; Lopez de Munain Arregui A | 2011Statins represent the main therapeutic class of lipid-lowering drugs which are generally well tolerated although side effects may arise in skeletal muscle. The lipophilicstatin cerivastatin has been used to investigate the development of statin-[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bernard N ; Moumen A ; Raoul C ; Pettmann B | 2011Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease targeting motoneurons and leading to muscle atrophy and death. The most common familial form and best characterized mouse model of ALS are linked to mutations in the superoxide d[...]Article
BackgroundDuchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. It is characterised by progressive muscle wasting and weakness of variable distribution and severity. Hea[...]Article
AFM-TELETHON 2011Muscle responds to a wide variety of stressors by hypertrophic growth of myocytes. In various muscular disorders, this hypertrophic response may temporarily serve a compensatory role but becomes detrimental when prohypertrophic stimulation persi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cattin ME ; Vignier N ; Carpentier W ; Cagnard N ; Bonne G | 2011Lamin A and C, encoded by LMNA gene, localize at the inner face of the nuclear membrane and interact with many proteins and DNA. Mutations reported all along the LMNA gene are responsible for multiple diseases including Emery-Dreifuss muscular d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mikaouar-Rebai E ; Chamkha I ; Fendri-Kriaa N ; Kammoun T ; Chabchoub I ; Aloulou H ; Hachicha M ; Fakhfakh F | 2011Mitochondrial cytopathies are a group of multi-systemic diseases exhibiting biochemical, histological and/or genetic evidence of mitochondrial dysfunction. These diseases include syndromes caused by molecular defects in mitochondrial DNA (mtDNA)[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pinto Mariz F ; Carvalho L ; Araujo A ; de Mello W ; Ribeiro M ; Cunha MDC ; Riederer I ; Negroni E ; Mouly V ; Voit T ; Desguerre I ; Butler Browne G ; Savino W ; Silva-Barbosa SD | 2011Background. Duchenne muscular dystrophy (DMD) affects 1:3,500 male births, and is caused by mutations in the dystrophin gene. Even though the genetic mutation results in decreased resistance of muscle fibers, the immune response may contribute t[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Martinat C | 2011The lack of existing models of human pathologic tissues has rendered many important questions in disease pathogenesis inaccessible until now. Disease-specific human pluripotent stem cells, from embryonic origin or more recently derived from repr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Durieux AC ; Vassilopoulos S ; Laine J ; Fraysse B ; Prudhon B ; Freyssenet D ; Bonne G ; Guicheney P ; Bitoun M | 2011Dynamin 2 (DNM2) is involved in endocytosis and intracellular membrane trafficking through its function in vesicle formation and release from distinct membrane compartments. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dumonceaux J ; Bartoli M ; Mariot V ; Vovard F ; Whalen S ; Ferreboeuf M ; Mamchaoui K ; Mouly V ; Helmbacher F ; Butler-Browne GS | 2011Facioscapulohumeral dystrophy (FSHD) is a human myopathy characterized by a progressive decrease in muscle mass and weakness in facial, upper arm, shoulder girdle and lower limb muscles, these symptoms frequently showing a right/left asymmetry. [...]