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)
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Ledoux I ; Behin A ; Stojkovic T ; Laforet P | AFM-TELETHON | 2011The Grip Test was created to develop a standardized non-ischemic forearm-exercise test for a safe screening of patients with exercise intolerance. In only one session, the maximum grip strength, the fatigue resistance and the muscle metabolism d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guiraud-Dogan C ; Hamroun D ; Beroud C ; Eymard B ; Bassez G | AFM-TELETHON | 2011Myotonic dystrophy (DM) is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. Such variability together with multisystemic involvement creates particular challenges for both clinical management and design of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Messaoud-Khelifi M ; Khau Van Kien P ; Thorel D ; Méchin D ; Ishmukhametova A ; Vincent MC ; Claustres M ; Tuffery-Giraud S | 2011While it is admitted that 74%-95% of multiexon genes in human undergo alternative splicing, the occurrence of aberrant pseudoexon (PE) inclusion in mature transcripts in normal and pathological conditions is far from being known. PEs are introni[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lachey J ; Wong V ; Seehra J | 2011Activin receptor type IIB (ActRIIB) is a signaling receptor for ligands involved in suppressing muscle growth. Blocking ActRIIB signaling increases muscle mass and function. RAP-031, a soluble fusion protein comprised of a form of ActRIIB extrac[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sirvent P ; Ennequin G ; Gerbaix M ; Guillet C ; Masgrau A ; Courteix D ; Metz L | AFM-TELETHON | 2011Neuregulin was initially described as a neurotrophic factor involved in the formation of the neuromuscular junction in skeletal muscle. However, in recent years, neuregulin has been reported to be a myokine that exerts relevant effects on the re[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nguyen K ; Walrafen P ; Bernard R ; Attarian S ; Chaix C ; Vovan C ; Renard E ; Pouget J ; Vannier A ; Bensimon A | AFM-TELETHON | 2011The genetic modifications associated with facioscapulohumeral dystrophy (FSHD), one of the most common hereditary muscular disorders are complex, including mainly the contraction of a D4Z4 repeat array at the 4q35 subtelomeric region together wi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Leonardis L ; de Greef J ; Lemmers R | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is linked in more than 95% of cases to D4Z4 repeat contraction on chromosome 4q35 (FSHD1). In patients with a typical clinical presentation but without D4Z4 repeat deletions, loss of DNA methylation [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Puymirat J ; Bouchard JP ; Mathieu J ; Cossette L ; Bassez G | 2011A DM registry is essential to both identify potential participants in clinical trials and to follow the natural history of the disease. Such a registry will serve as an indicator of the effectiveness of the health care provided to the DM populat[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vallese D ; Negroni E ; Yada E ; Di Santo J ; Ferry A ; Vitiello L ; Mouly V ; Butler-Browne GS | 2011Cell therapy has been long explored as a potential approach for DMD, although the positive results obtained in animal models have been followed by discouraging evidences in clinical trials. This emphasized the importance of investigating the in [...]Article
The RNA-binding protein STAUFEN1 is increased in DM1 skeletal muscle and regulates PRE-MRNA splicing
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ravel Chapuis A ; Bélanger G ; Yadava R ; Mahadevan M ; Desgroseillers L ; Coté J ; Jasmin B | AFM-TELETHON | 2011Myotonic Dystrophy (DM1) is caused by an expansion of CTG repeats in the 3' untranslated region (3'UTR) of DMPK mRNA. The expanded mRNA aggregates in the nucleus and becomes toxic to cells by sequestering and/or misregulating RNA-binding protein[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rizzato V ; Fappi A ; Xavier G ; Godoy T ; Bonten E ; van de Vlekkert D ; Chadi G ; d'Azzo A ; Zanoteli E | AFM-TELETHON | 2011Lysosomal neuraminidase (NEU1) is the glycosidase responsible for the catabolism of sialic acid-containing glycoconjugates. A deficiency of this enzyme is associated with the lysosomal storage disease sialidosis. Children affected by this diseas[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Metzger D | 2011Skeletal muscles generate locomotor force and heat, and play an important metabolic role in mammals. They are composed of myofibers exhibiting distinct contractile and metabolic properties, and display a remarkable adaptation to functional and m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hébert L ; Puymirat J ; Saulnier J | AFM-TELETHON | 2011Introduction. In Myotonic Dystrophy type 1 (DM1), few consensuses have emerged with regard to muscle strength impairments, and level of function. Distal weakness first appears and is usually identified after 9 to 10 years' duration of the illnes[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Barthelemy F ; N.Wein ; Krahn M ; Courrier S ; Leturcq F ; Avril A ; Mouly V ; Garcia L ; Bartoli M | 2011Mutations in gene encoding dysferlin (DYSF, Chr. 2p13; 55 exons, mRNA 6,2kb) causes Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. Both diseases are autosomic recessive diseases with an age of onset at the early adulthood, associat[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Prevel N ; Allenbach Y ; Herson S ; Klatzmann D ; Benveniste O | AFM-TELETHON | 2011Introduction:Polymyositis (PM) and Inclusion body myositis (IBM) are inflammatory myopathies caraterized by invaded muscle fibers by autoreactive CD8+ T cells. Immunosupressive drugs used in PM are not always efficacious and have no effect on IB[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Panse R ; Cufi P ; Weiss J ; Dragin-Mamavi N ; Berrih-Aknin S | AFM-TELETHON | 2011Myasthenia Gravis (MG) is mainly due to autoantibodies against the nicotinic acetylcholine receptor (AChR) at the postsynaptic membrane that cause loss of functional AChR and disturb neuromuscular transmission. The thymus is clearly involved in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hackman P ; Screen M ; Illa I ; Hankiewicz K ; Rojas R ; Richard I ; Vihola A ; Suominen T ; Penttila S ; Solders G ; Udd B | 2011The gene defects underlying the autosomal dominant late onset distal myopathy tibial muscular dystrophy (TMD, OMIM #600334 Udd myopathy) are in the titin (TTN) gene. TTN codes for the sarcomeric giant protein titin spanning one half sarcomere in[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jonuschies J ; Boldrin L ; Muntoni F ; Morgan J | 2011Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disorder characterized by an early onset and rapidly progressing muscle degeneration due to the absence of functional dystrophin protein. Damaged muscle fibres can be regenerated by their [...]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 [...]