Détail du congrès:
Congrès: 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) (9-13 mai 2011)
Commentaire :
AFM
|
Documents disponibles provenant de ce congrès (480)
trié(s) par (Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Puttini S ; van Zwieten R ; Malgorzata L ; Kulik AJ ; Brune H ; Lobrinus A ; Dunand M ; Dietler G ; Kuntzer T ; Mermod N | 2011The diagnosis of muscular diseases, or the assessment of the functional benefit of gene or cell therapies, often remains difficult. Duchenne muscular dystrophy results from the lack of dystrophin. This protein mediates part of a physical link be[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hammaren E ; Kjellby-Wendt G ; Lindberg C | AFM-TELETHON | 2011Objective: The aim of this study was to map balance and gait deficits in relation to muscle strength, stumbles and falls. Methods: All adult walking individuals with classical or late-onset genetically proven DM1 between 20-60 years of age were [...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Köster D ; Blouin C ; Sinha B ; Bigot A ; Butler Browne G ; Nassoy P ; Lamaze C | AFM-TELETHON | 2011Caveolae, the characteristic plasma membrane invaginations present in many cells, have been associated with numerous functions that still remain debated. The particular abundance of caveolae in cells experiencing mechanical stress led us to inve[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; François V ; Le Guiner C ; Montus M ; Servais L ; Cherel Y ; Fromes Y ; 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)) ; Schirwis E ; Mousiel E ; Alonso-Martin S ; Beley C ; Precigout G ; Garcia L ; Relaix F ; Amthor H | AFM-TELETHON | 2011Bone Morphogenetic Proteins (BMPs), a subfamily of signaling molecules of the TGF-beta family, and their antagonist Noggin regulate embryonic and fetal muscle growth. Moreover, a recent in-vitro study demonstrated that the signaling system BMP/N[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sternberg D ; Chevessier F ; Bassez G ; Behin A ; Echaniz-Laguna JA ; Eymard B ; Franques J ; Pereon Y ; Vicart S ; Hantaï D ; Fournier E | AFM-TELETHON | 2011Exercise-induced muscle stiffness occuring since childhood can be due to a genetic muscle excitability disorder. Electromyographic (EMG) examination allows to distinguish between non-dystophic myotonias (NDM, with typical myotonic bursts) and an[...]Article
Article
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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brignol TN | AFM-TELETHON | 2011Introduction Double blind randomization in rare neuromuscular diseases is extremely difficult to conduct, particularly if the tested "drug" has to be blind in design and to be compared to a placebo or a standard treatment which does not exist ye[...]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)) ; Vlodavets D ; Kharlamov D ; Sukhorukov V ; Belousova E ; Zhdanova E | 2011In our every day clinical practice we are frequently seeing the patients in whom the diagnosis of DMD is delayed. There are objective and subjective reasons for misdiagnosis. Early infantile form of DMD resembles the psycho-motor delay, that usu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011The McArdle s disease (GSD V, MIM#232600) is the most common autosomal recessive disorder of glycogen metabolism. There are several mutations in the myophosphorylase gene (PYGM, MIM#608455). There is a clinical heterogeneity, with a wide clinica[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joanne P ; Chourbagi O ; Menny A ; Agbulut O | 2011Desminopathy is a clinically and genetically heterogeneous group of sporadic and familial skeletal and cardiac muscular disorders with a common morphological phenotype (Goldfarb et al., 2004; Paulin et al., 2004). Little is known about the patho[...]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. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chiron S ; Tomczak C ; Laine J ; Coirault C | 2011Rationale: Engineered muscle tissue (EMT) from human cells may provide advanced in vitro models for drug testing and for pathophysiological analysis of musculardisorders. 3D cultures allow cell-cell and cell-extracellular matrix (ECM) interactio[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ramachandran U ; Marlow G ; Barresi R ; Mahjneh I ; Bashir R | 2011The ANO5 gene is mutated in LGMD2L and a non-dysferlin Miyoshi myopathy, MMD3. Recessive ANO5 mutations are associated with sarcolemmal lesions and defective membrane repair. In European patients the ANO5 mutation, c.191dupA, is present in both [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Marechal X ; Villoutreix B ; Vidal J ; Miuzzo M ; Bianchini E ; Sandona D ; Betto R ; Reboud-Ravaux M | 2011The majority of sarcoglycanopathies are associated with missense mutations in each of the four sarcoglycans (a, b, g and d) that mainly generate misfolded proteins.These are identified by the endoplasmic reticulum quality control system and elim[...]