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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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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Clément N ; Pisani D ; Sacconi S ; Desnuelle C ; Dani C ; Dechesne CA | 2011INTRODUCTION: Muscle-derived cells are able to differentiate towards osteogenic, chondrogenic or adipogenic lineage, in addition of their myogenic potential. Thisraises many biological and clinical questions. The cellular bases and the role of t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Liao H ; Adriouch S ; Authier FJ ; Boyer O ; Gherardi RK | AFM-TELETHON | 2011Myoinjury elicits an innate immune response with local generation of monocyte-derived "inflammatory" dendritic cells (Brigitte et al, Arthritis Rheum 2010). The adaptative immune response takes place in draining lymph nodes (dLNs) and spleen whe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Espartaco R ; Margaret M ; Eck P ; Leroy F ; Moirot P ; Lamy T ; Françoise C | 2011An obese (1m65, 105 kg) woman presented since the age of 53 years, in 2002, a facial weakness, initially left, then bilateral, associated with an hypoesthesia in the territory of the lower branch of the fifth cranial nerve and with a paralysis o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Etienne M ; Giannesini B ; Mille-Hamard L ; Relizani K ; Denis R ; Hourde C ; Agbulut O ; Lutzkendorf S ; Arandel L ; Vignaud A ; Garcia L ; Ferry A ; Luquet S ; Billat V ; Bendahan D ; Ventura-Clapier R ; Schuelke M ; Amthor H | 2011The function of myostatin to restrict growth of the body musculature is often regarded as disadvantageous, because muscle prowess commonly associates with health and fitness.Here, we show that larger skeletal muscle that developed in absence of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chelh I ; Hadj Sassi A ; Pires-Alves A ; Cottin P | AFM-TELETHON | 2011Myostatin (MSTN), a growth factor member of the TGF-beta superfamily acts as a negative regulator of skeletal muscle growth and then contributes to muscle atrophy. The objective of this study* was to determine the interactions between this growt[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gentil C ; Mouisel E ; Amthor H ; Ferry A ; Voit T ; Garcia L ; Pietri Rouxel F | AFM-TELETHON | 2011In skeletal muscle, the _1 S subunit of the DHPR calcium channel functions both as the L-type Ca2+ channel and the voltage sensor for excitation-contraction coupling. We have combined optimized U7snRNA and gene transfer to achieve long-lasting d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Relizani K | AFM-TELETHON | 2011Objective: Abrogation of activin-receptor signaling such as myostatin blockade stimulates skeletal muscle growth and is regarded as a potential therapeutic strategy against muscle wasting in muscular dystrophies. We previously explored the myost[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rodriguez J ; Hayot M ; Vernus B ; Carnac G ; Jean E ; Allen D ; Goret L ; Obert P ; Candau R ; Bonnieu A | AFM-TELETHON | 2011Myostatin, a member of the TGF-_ superfamily of ligands, has been shown to be a negative regulator of skeletal muscle mass during embryogenesis and early postnatal muscle growth. Several studies indicate that myostatin is an important mediator o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hernandez-Hernandez O ; Guiraud-Dogan C ; Sicot G ; Luilier S ; Saenger S ; Obriot H ; Huguet A ; Nicole A ; Marsiniak E ; Revillod L ; Bizot JC ; Humez S ; Bassez G ; Metzger F ; Sergeant N ; Gourdon G ; Gomes Pereira M | AFM-TELETHON | 2011Although traditionally regarded as a muscle disease, myotonic dystrophy type 1 (DM1) has emerged as a brain disorder. The congenital form of the disease presents severe mental retardation, whereas hypersomnia, learning problems, personality chan[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Makri S ; Salhi S ; Richard P ; Terki N ; Romero NB ; Guicheney P ; Kaci-Ahmed MA | 2011Introduction. Mutations in the FKRP gene result in a wide spectrum of clinical conditions ranging from of congenital muscular dystophy (MDC1C) to a milder form of limb girdle muscular dystrophy (LGMD2I). Both intelligence and brain imaging have [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jacquette A ; Lemaitre H ; Angeard N ; Eymard B ; Whalen S ; Desguerre I ; Brunelle F ; Zilbovicius M ; Heron D ; Boddaert N | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited neuromuscular condition caused by an abnormal CTG triplet expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q35The [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bucher T ; Joussemet B ; Astord S ; Briot-Nivard D ; Wakeling E ; Fyfe J ; Costiou P ; Marais T ; Hogrel JY ; Voit T ; Moullier P ; Barkats M | 2011Domestic cats exhibiting a recessive form of lower motor neuron (MN) degeneration, associated with a deletion of the lix1 gene, represent a large animal model of type III spinal muscular atrophy (SMA). In this study, we first analyzed the effici[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hanisch F ; Weidemann W ; Stoltenburg G ; Weis J ; Zierz S ; Horstkorte R | 2011Background: Hereditary inclusion body myopathy type 2 (hIBM) is a rare autosomal-recessive disorder due to mutations in the UDP-N-Acetylglucosamine2-Epimerase/NAcetylmannosamine kinase [GNE]. The model of the Gne-/-hGNED176VL-Tg mouse resembles [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarzi E ; Prouteau C ; Bielicki G ; Boddaert N ; Rigau V ; Delettre C ; Hamel C ; Reynier P ; Lenaers G | AFM-TELETHON | 2011PURPOSEDominant Optic Atrophy (DOA) is an inherited mitochondrial disease mainly caused by mutations in the OPA1 gene, encoding a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis. DOA is char[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cluet D ; Dibenedetto S ; Drouin E ; Spichty M ; Yu LL ; Thomas JL ; Gangloff YG ; Yuan CG ; Schaeffer L ; Zoli M ; Rudkin B ; Zhang Q ; Ding S | 2011One of the most important and time-consuming challenge in vivo studies of neuro-muscular diseases is to precisely monitor subtle and significant modifications of thecharacteristics within the myofiber population. To date, counting and shape desc[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carole V ; Pascal R ; Bérard C | 2011Author:C. Vuillerot1, P. Rippert1, C. Brd1 and the NM-Score study group21 L'Escale, HFME, HCL, France2 France (Angers, Grenoble, Hendaye, Lille, Marseille, Montpellier, Nice, Paris, St Denis de la Rion, St Etienne, Toulouse, Vandoeuvre les Nancy[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dangelo MG ; Gandossini S ; Sciorati C ; Bonato S ; Brighina E ; Boneschi FM ; Comi GP ; Turconi AC ; Brunelli S ; Baldelli S ; Cattaneo D ; Bresolin N ; Clementi E | 2011ObjectiveWe performed a pilot study with the primary aim to establish the safety, tolerability of a combination of the NO donor isosorbide dinitrate and the non steroid antiinflammatorydrug ibuprofen in a cohort of adult patients affected by mus[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Billiet L ; Gonçalves C ; Berchel M ; Jaffrès PA ; Montier T ; Lehn P ; Bertrand E ; El-Ghoul Y ; Cheradame H ; Guegan P ; Pichon C ; Midoux P | 2011Duchenne muscular dystrophy (DMD) is one of the most severe myopathies caused by mutations in the dystrophin gene. Gene therapy is being investigated to introduce by non viral vectors, the normal dystrophin gene into skeletal muscle cells. The k[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Piekuse L ; Lce B ; Bauze D ; Pronina N ; Daneberga Z ; Krumina A | AFM-TELETHON | 2011Case report - girl 4y of age had genetic consultation due to slight mental retardation, speech delay, autistic behavior, stereotypic movements and not developed fine motor skills. In blood biochemical investigation there were discovered slightly[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hubert JF ; Moore S ; Delalande O ; Chéron A ; Bennett L ; Kupski W ; El-Baba M ; Le Rumeur E ; Ascadi G | 2011Missense mutations in the dystrophin gene often lead to Becker muscular dystrophy (BMD) but genotype/phenotype correlation is difficult to establish. Amino acid substitutions even in the repeat region of dystrophin may disrupt binding capacities[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rafai MA ; Ibnkhribchia R ; Boulaajaj F ; Oumari S ; Manaf S ; El Moutawakil B ; Slassi I | AFM-TELETHON | 2011Introduction: Idiopathic orbital myositis is a rare entity, considered a sub-group of the orbit's Inflammatory pseudotumori. Cases report: Case 1: A 44 years old woman admitted for bilateral orbital pain, associated periorbital oedema and diplop[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Loureiro De Sousa P ; Vignaud A ; Caldas de Almeida Araujo E ; Carlier PG | AFM-TELETHON | 2011Background. There is a strong need of non-invasive outcome measures for monitoring the natural progression of muscle disorders, particularly at the early stages of involvement. In this context, quantitative NMR imaging might provide objective ma[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hanif M ; Pelin K ; Gronholm M ; Wallgren-Pettersson C | 2011The core objective of this study is to help elucidate the functional pathogenesis of nemaline myopathy and related disorders caused by mutations in the nebulin gene (NEB). Nebulin is a giant actin-binding protein which is located in the I-band o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fréret M ; Drouot L ; Ahmed Lecheheb S ; Dauly C ; Cosette P ; Authier FJ ; Boyer O | AFM-TELETHON | 2011Normal muscle fibers do not express detectable levels of class I major histocompatibility complex (MHC-I). In contrast, high-level expression of MHC-I is a hallmark of muscle autoimmune diseases such as polymyositis, inclusion-body myositis or d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cacheux M ; Fauré J ; Brocard J ; Monnier N ; Lunardi J ; Marty I | 2011Muscle contraction is achieved when an efficient excitation signal at the plasma membrane triggers intracellular calcium release. This process called "excitationcontraction (E-C) coupling" relies on a multimolecular protein complex, the calcium [...]