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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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Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schepens I ; Poliakova K ; Borradori L | AFM-TELETHON | 2011The dystonin gene encodes several tissue selective BPAG1 protein isoforms, issued from alternative splicing. In skeletal muscle, the main isoform is BPAG1-b, a 830kDa protein that presents the hallmarks of both spectrin and plakin families. The [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Beyer S ; Mlquerol L | 2011Left ventricular non-compaction (LVNC), frequently associated with neuromuscular disorders, can be considered a third form of congenital cardiomyopathy. This is a rare and severe form of cardiomyopathy, characterized by extensive ventricular tra[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Monjaret F ; Gallardo E ; Karine C ; Richard I | 2011Deficiency in Dysferlin cause two major phenotypes: Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). There is no treatment to date for these diseases. However, several therapeutic strategies by gene therapy have already[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lorain S ; Peccate C ; Le Hir M ; Griffith G ; Voit T ; Garcia L | 2011Mutations in the dystrophin gene cause Duchenne muscular dystrophy, the most common severe childhood muscular pathology. With antisense sequences linked to a modified U7 small nuclear RNA, we achieved persistent exon skipping that removes the mu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Philippi S ; Lorain S ; Zacharias U ; Marg A ; Bartoli M ; Krahn M ; Bigot B ; Mouly V ; Spuler S ; Garcia L | 2011Mutations in the gene encoding dysferlin cause Limb Girdle Muscular Dystrophy Type 2B (LGMD2B) and Miyoshi Myopathy (MM). While LGMD2B leads to muscle weakness and atrophy in proximal muscles of the limb girdle regions, MM mainly affects posteri[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Etienne M ; Hoogaars W ; Relizani K ; Hourde C ; Precigout G ; Ferry A ; Garcia L ; Ritvos O ; Hoen P ; Amthor H | 2011Myostatin and homologous molecules restrain growth of skeletal muscle by signalling via the transmembrane Activin-receptor-IIB (ActRIIB). Treatment with soluble ActRIIB-Fc fusion protein sequesters ActRIIB-ligands, which inhibits signal transduc[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Tupler R ; Sancisi V ; Germinario E ; Esposito A ; Morini E ; Peron S ; Moggio M ; Tomelleri G ; Danieli D | 2011Facioscapulohumeral muscular dystrophy is an autosomal dominant neuromuscular disorder that is not due to a classical mutation within a protein-coding gene. Instead, almost all FSHD patients carry a reduced number of tandem 3.3-kilobase repeat u[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fabrice A ; Konig S ; Bernheim L ; Frieden M | 2011The myogenesis process involves the expression of muscle-specific transcription factors such as myogenin and MEF2, and is essentially regulated by fluctuations of the cytosolic Ca2+ concentration. Previous work demonstrated that hyperpolarizatio[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lotteau S ; Ducreux S ; Romestaing C ; Van Coppenolle F | AFM-TELETHON | 2011Sarcoplasmic reticulum (SR) is an important compartment of the skeletal muscle cells involved in calcium release and calcium re-uptake during fibers contraction and relaxation. SR calcium concentration is mainly due to a balance between calcium [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mezghrani A ; Julie S ; Metz A ; Huc-Brandt S ; Page K ; Dolphin A ; Lory P | AFM-TELETHON | 2011Soluble and membrane misfolded proteins are generally retained and degraded in the endoplasmic reticulum (ER) by the proteasome system known as Endoplasmic Reticulum Associated Degradation (ERAD). A crucial step in ERAD is the protein recognitio[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Monestier O ; Brun C ; Heu K ; Malhouroux M ; Vuillier Devillers K ; Magnol L ; Blanquet V | AFM-TELETHON | 2011Gasp-1 (Growth and differentiation factor associated serum protein 1) contains multiple domains associated with protease-inhibitory proteins. Like its homologous protein Gasp-2, Gasp-1 is able to bind both Gdf8 and Gdf11, two secreted factors th[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Panaite PA ; Kielar M ; Gourdon G ; Kuntzer T ; Kraftsik R ; Barakat-Walter I | AFM-TELETHON | 2011Objective: Myotonic dystrophy (DM1, also known as Steinert disease) is characterized primarily by myotonia and muscle weakness and is a multisystemic disorder. Although several studies have been carried out to verify the possible involvement of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Buyse G ; Voit T ; Schara U ; Verschuuren J ; Bernert G ; Jeannet P ; Sejersen T ; Rubino R ; Meier T | 2011Respiratory complications cause early morbidity and mortality in patients with Duchenne muscular dystrophy (DMD). The use of glucocorticoids slows the decline in respiratory function, but their long-term use is hampered by significant side effec[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Benali M ; Canal A ; Moraux A ; De Coninck N ; Desguerre I ; Quijano Roy S ; Estournet B ; Mayer M ; Thémar-Noël C ; Voit T ; Servais L | AFM-TELETHON | 2011Disease progression in children with neuromuscular disorder is frequently assessed by the 6-min walk test, which classically constitutes the clinical primary outcome in the present therapeutic trials. However, assessing the muscle function in no[...]Article
Validation of a new ankle dynamometer for ankle dorsiflexion and plantar flexion torque measurements
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Moraux A ; Canal A ; Ollivier G ; Ledoux I ; Doppler V ; Payan C ; Roques S ; Behin A ; Hogrel JY | AFM-TELETHON | 2011Ankle strength is one of the functions primarily affected in several neuromuscular disorders such as Charcot-Marie-Tooth disease or Myotonic Dystrophy type 1. In order to accurately follow the evolution of the disease and quantify effects of new[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Argov Z ; Sela I ; Yakovlev L ; Mitrani-Rosenbaum S | 2011Mutations in GNE cause Hereditary Inclusion Body Myopathy (HIBM), an adult onset, slowly progressive distal and proximal myopathy. GNE is well known as the key enzyme for the biosynthesis of sialic acid, but the exact mechanism of the disease is[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Zamba-Papanicolaou E ; Nicolaou P ; Kleopa K ; Middleton L ; Christodoulou K ; Kyriakides T | AFM-TELETHON | 2011Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuromuscular disorders, with a prevalence of 17-40 per 100,000 individuals. CMT is classified into two main subgroups, demyelinating (HMSN I or CMT1) and axonal (HMSN II or C[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Blondelle J ; Maurer M ; Walmsley G ; Piercy R ; Blot S ; Tiret L ; Pilot-Storck F | 2011An autosomal form of centronuclear myopathy (CNM) spontaneously segregates in Labrador retrievers and constitutes a large animal model suitable for comparative functional analyses. In young affected dogs, muscle fibers exhibit size heterogeneity[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carlier RY ; Laforet P ; Wary C ; Mompoint D ; Pellegrini N ; Annane D ; Carlier PG ; Orlikowski D | 2011Purpose. To describe muscle involvement on whole-body MRI scans in adult patients at different stages of late-onset Pompe disease.Materials and methods. Twenty patients aged 37 to 75 were examined. Five were bedridden and required ventilatory su[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jarraya M ; Quijano Roy S ; Behin A ; Avila-Smirnow D ; Monnier N ; Romero NB ; Barois A ; Estournet B ; Carlier PG ; Carlier RY | 2011Mutations of TPM2, a gene coding for tropomyosin 2, have been identified in patients with nemalin myopathy or CAPs disease. Using whole-body (WB) MRI, we determined the patterns of muscle involvement in patients with TPM2 mutations. Materials an[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fakhfakh F ; Mkaouar-Rebai E ; Chamkha I ; Kammoun F ; Kammoun N ; Hsairi I ; Triki C | 2011Mitochondrial diseases are a wide group of disorders characterized by genetic or biochemical abnormalities of the oxidative phosphorylation. They may depend on mitochondrial DNA as well as on nuclear genome defects. Mitochondrial DNA related dis[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bernabe Gelot A | AFM-TELETHON | 2011Type IV Glycogen storage disease is a rare hereditary metabolic disorder, which is due to the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, critical in the production of glycogen. This leads to very long unbranched glu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bernardi H ; Gay S ; Y.Fedon ; B.Vernus ; Bonnieu A ; Bacou F | 2011Expression of Wnt proteins is known to be important for developmental processes such as embryonic pattern formation and determination of cell fate. Previous studies have shown that Wn4 was involved in the myogenic fate of somites, in the myogeni[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Strochlic L ; Falk J ; Goillot E ; Sigoillot S ; Bourgeois F ; Delers P ; Swain A ; Castellani V ; Schaeffer L ; Legay C | AFM-TELETHON | 2011Neuromuscular junction (NMJ) formation requires a highly coordinated communication via several reciprocal signaling processes between motoneurons and muscle targets. Identification of the local and early cues in target recognition at the NMJ is [...]