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
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Documents disponibles provenant de ce congrès (480)
Article
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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pryadkina M ; Bourg N ; Lostal W ; Roche J ; Bloch R ; Borel P ; Stockholm D ; Richard I | AFM-TELETHON | 2011Deficiencies in dysferlin (DYSF) are responsible for two main progressive muscular dystrophies: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). This transmembrane protein was shown to play a role in the repair of the p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hanisch F ; Hensel O ; Bock K ; Stoltenburg G ; Weis J ; Zierz S | AFM-TELETHON | 2011Background: Animal models and histopathological findings show glycogen accumulation and vacuolation in smooth muscles of the vessels in glycogenosis type II (Pompe disease). Several case reports had described cerebrovascular complications due to[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Renna LV ; Cardani R ; Malatesta M ; Giagnacovo M ; Pellicciari C ; Meola G | AFM-TELETHON | 2011Myotonic dystrophy (DM) is an autosomal dominant multisystemic disorder characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac dysfunctions, cataracts and insulin-resistance. One form of the disorder[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sitzia C ; Farini A ; Navarro C ; D'Antona G ; Belicchi M ; Parolini D ; Bottinelli R ; Meregalli M ; Torrente Y | AFM-TELETHON | 2011Limb Girdle Muscular Dystrophies (LGMDs) are a group of muscular diseases characterized by predominant weakness and wasting of muscles of the pelvic and shoulder girdle. LGMD-2B and MM were found to arise from defects in the dysferlin gene. In L[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mondielli G ; Conrod S ; Debarnot C ; Bougis P ; Bourne Y ; Marchot P | AFM-TELETHON | 2011Acetylcholinesterase (AChE) rapidly hydrolyzes the neurotransmitter ACh at central and peripheral synapses to restore the excitability of the postsynaptic membrane of neurons and muscles. AChE inhibitors are used to attenuate the cognitive or fu[...]Article
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)) ; Neal A ; Boldrin L ; Morgan J | AFM-TELETHON | 2011Satellite Cells (SCs) are defined by their anatomical location between the sarcolemma and the basal lamina of muscle fibres. Evidence suggests that only a subpopulation of SCs function as muscle stem cells. Here we demonstrate that the number of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Kaminsky P ; Poussel M ; Pruna L ; Chenuel B ; Brembilla-Perrot B | AFM-TELETHON | 2011Objective: The aim of the study was to identify, in addition to conduction defects, possible predictors of cardiac events and death in patients with myotonic dystrophy (DM1). Methods and design: A retrospective observational cohort study was und[...]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)) ; Vauchez K ; Catelain C ; Marolleau JP ; Schmid M ; Chapel A ; Khattar P ; Lecourt S ; Larghero J ; Fiszman M ; Vilquin JT | AFM-TELETHON | 2011Human skeletal muscle is an essential source of cellular progenitors with potential therapeutic perspectives deserving further identification and characterization. Aldehyde dehydrogenase type 1A1 (ALDH) belongs to a large family of enzymes invol[...]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)) ; Piccoli M ; Franzin C ; Bertin E ; Repele A ; Blauuw B ; Urbani L ; André-Schmutz I ; Melki J ; Cavazzana-Calvo M ; Pozzobon M | AFM-TELETHON | 2011Mutations of the survival of motor neuron gene (SMN1) are responsible for Spinal Muscular Atrophy (SMA), a fatal neuromuscular disorder. Mice carrying homozygous deletion of Smn exon 7 directed to skeletal muscle (HSA-Cre, SmnF7/F7 mice), presen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Simon J ; Krahn M ; Schaeffer S ; Landemore G ; Romero NB ; Leturcq F ; Françoise C | AFM-TELETHON | 2011A woman, born in 1962, with personal history of lombar pains and left sciatica in 2007 but without familial history, presented suddenly in 2007 pains in her left calf. CK were elevated (normal X 4). Myalgias with muscle-stiffness progressively e[...]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)) ; Yamina S ; Karima S ; Nouredine A ; Cherifa B ; Abdemadjid H | AFM-TELETHON | 2011Introduction Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1/10,000 newborns. It is divided into acute Werdnig-Hoffmann disease (type I), intermediate form (type II), Kugelberg-Wel[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarkozy A ; Hicks D ; Hudson J ; Krause S ; Walter M ; Rufibach L ; Hwang E ; Illa I ; Van der Bergh P ; Bashir R ; Besnier-Penisson I ; Laval S ; Straub V ; Lochmuller H ; Bushby K | AFM-TELETHON | 2011Recessive mutations in the ANO5 gene cause limb girdle muscular dystrophy type 2L (LGMD2L). Patients with ANO5 mutations present with a pattern of proximal weakness affecting predominantly the pelvic girdle and leg muscles, associated with a les[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joshi P ; Glaser D ; Hanisch F ; Stoltenburg G ; Zierz S ; Deschauer M | AFM-TELETHON | 2011Recessive mutations in the Anoctamin 5 (ANO5) gene have been recently identified in families with limb girdle muscular dystrophy (LGMD2L) and distal myopathy type Miyoshi. Molecular genetic testing is necessary to detect patients with anoctamino[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hoen P ; Kemaladewi D ; van Heiningen S ; Aartsma Rus A ; van Ommen GJ ; Ten Dijke P ; Hoogaars W | 2011Myostatin and Transforming Growth Factor (TGF)-beta play important roles in regulation of muscle differentiation and fibrosis, and are emerging as attractive therapeutic targets in the treatment of Duchenne Muscular Dystrophy (DMD). We specifica[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gallais B ; Montreuil M ; Gargiulo M ; Eymard B | AFM-TELETHON | 2011OBJECTIVES: The aim of this study was to identify apathy levels, and to discuss the association of this condition with mood disturbances and neuropsychological manifestations in patients with Myotonic Dystrophy Type-1 (DM1).METHOD: we assessed 3[...]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[...]