Mots-clés
> MYOBASE > INFORMATION-COMMUNICATION > communication > événement > colloque
colloqueSynonyme(s)abstract ;acte de colloque ;conférence ;congrès ;journée ;séminaire ;work shop ;workshop ;rencontre symposium |
Documents disponibles dans cette catégorie (3069)
Article
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
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[...]Article
Centronuclear myopathies (CNM) are a group of congenital disorders characterized by hypotonia and typical skeletal muscle biopsies showing small rounded fibres with centralized nuclei. Three forms have been documented: the X-linked form with mut[...]Article
Cazorla O ; Blot S ; Ait Mou Y ; Blanchard-Gutton N ; Barthelemy I ; Sambin L ; Carlos Sampedranos C ; Gouni V ; Unterfinger Y ; Aguilar P ; Thibaud JL ; Ghaleh B ; Bizé A ; Pouchelon JL ; Berdeaux A ; Lacampagne A ; Chetboul V ; Hittinger L | 2011Mutations in dystrophin gene result in loss of dystrophin protein in striated muscles leading to Duchenne muscular dystrophy (DMD) that remains an untreatable disease.Similarly, due to a mutation of the dystrophin gene leading to loss of the pro[...]Article
Ljubicic V ; Ljubicic V ; Lunde J ; Boudreault L ; Khogali S ; Burt M ; Renaud JM | AFM-TELETHON | 2011A therapeutic approach for Duchenne muscular dystrophy (DMD) is to upregulate utrophin levels in skeletal muscle in an effort to compensate for the lack of dystrophin. We have previously hypothesized that promotion of the slow, oxidative myogeni[...]Article
Barthelemy I ; Blanchard-Gutton N ; Sambin L ; Sampedranos CC ; Gouni V ; Unterfinger Y ; Aguilar P ; Thibaud JL ; Ghaleh B ; Bizé A ; Pouchelon JL ; Berdeaux A ; Blot S ; Chetboul V ; Hittinger L ; Su JB | 2011Mutations in the gene encoding dystrophin cause X-linked Duchenne muscular dystrophy (DMD) characterized by progressive muscle weakness and respiratory or cardiac failure. In golden retriever dogs, a mutation in dystrophin gene leads to golden r[...]Article
Pinto-Mariz F ; Negroni E ; Barthelemy I ; Blot S ; Savino W ; Voit T ; Mouly V ; Butler-Browne GS | 2011Duchenne muscular dystrophy (DMD) is an X-linked muscle wasting disease caused by the absence of functional dystrophin at the sarcolemma. There is currently no therapy for this disease, but stem cell-based cell therapy, eventually in combination[...]Article
Hamou W ; Meilhac S ; Le Garrec JF ; Nicolas JF ; Buckingham M | 2011Despite the fact that cardiac and skeletal muscles are structurally and functionally distinct, we show that a subset of skeletal muscles share common progenitors with the heart.It is established that somitic mesoderm is not the only source of sk[...]Article
Zenker J ; de Preux Charles AS ; Stende C ; Roos A ; Médard JJ ; Tricaud N ; Weis J ; Suterc U ; Senderek J ; Crast R | 2011Neuromuscular disorders represent a relatively heterogeneous group of diseases affecting muscle function either directly (myopathies), or indirectly via nerve (neuropathies) or neuromuscular junction dysfunctions. Peripheral neuropathies, which [...]Article
Urciuolo A ; Grumati P ; Cescon M ; Bonaldo P | 2011Collagen VI (ColVI) is an extracellular matrix protein composed by three chains (alpha1, alpha2 and alpha3), encoded by separate genes and forming a microfilamentous network in various tissues. ColVI is particularly abundant in skeletal muscles,[...]Article
An increasing number of muscular dystrophies have been linked to mutations in genes of extracellular matrix components. Collagen XXII is a marker of the myotendinousjunction but its function has not been investigated. We took advantage of the ze[...]Article
De Winter J ; Le Fur Y ; Pecchi E ; Vilmen C ; Cozzone PJ ; Granzier H ; Labeit S ; Ottenheijm O ; Go,din J ; Bendahan D | 2011INTRODUCTION: Nebulin is a giant protein expressed in skeletal muscle which plays a major role in both the organization of the sarcomeric structure and the regulation of cross-bridge cycling kinetics2,5. Indeed, reduced force production and calc[...]Rapport institutionnel
Colloque sans nom (20 juin 2011) | Paris : Ministère de l'Ecologie du Développement durable, des Transports et du Logement | 2011Ce document rend compte de la journée d'échanges sur les Commissions pour l'accessibilité aux personnes handicapées du 20 juin 2011. Ce rapport comporte un premier volet évaluant de manière statistique les rapports annuels des différentes Commis[...]Article
Legrand B ; Giudice E ; Nicolas A ; Delalande O | 2011Duchenne muscular dystrophy (DMD) is caused by the genetic deficit of dystrophin, a large cytoskeleton protein of skeletal muscle included in the DGC sarcolemmalcomplex. Dystrophin complete deficit in DMD leads to cell degeneration induced by fr[...]Article
Congenital myasthenic syndromes are characterized by muscle weakness during exercice. The mutations affects key events of the synaptic transmission but the consequence on the muscle contraction and the pathophysiology are poorly understood. Inde[...]Article
Eymard B, Auteur ; Sternberg D ; Richard P ; Fournier E ; Gaudon K ; Bauche S ; Koenig J ; Stojkovic T ; Baudouin H ; Ben Ammar A ; Chevessier F ; Huze C ; Herbst R ; Schaeffer L ; Romero NB ; Fardeau M ; Hantaï D | AFM-TELETHON | 2011Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. The combination of clinical, electrophysiological[...]Article
Sharma MC ; Yoganathan S ; Sarkar C | 2011Background: Congenital myopathies are a group of neuromuscular disorders, mostly occurring in childhood, chiefly in a familial fashion but occasionally occur in sporadic fashion. Through this paper, the authors present a clinicopathological anal[...]Article
Synemin is a linker protein, which form heteropolymer intermediate filaments with vimentin, desmin in the muscle or with neurofilaments, peripherins or GFAP in the nervous system. The synemin gene gives rise to three isoforms (H 180, M 150, L 41[...]Article
Malfatti E, Auteur ; Taratuto AL ; Monges S ; Lubieniecki F ; Stojkovic T ; Stojkovic T ; Lacene E ; Fardeau M ; Guicheney P ; Monnier N ; Romero NB, Auteur | 2011INTRODUCTION : " Core-rod myopathy " est une entité génétiquement hétérogène. A l'heure actuelle, la majorité des cas répertoriés dans la littérature sont associés à des mutations du gène RYR1 qui code pour le récepteur de la ryanodine 1 avec mo[...]Article
Aiastui A ; Pastoriza N ; Cano A ; Avril A ; Garcia L ; Lopez de Munain Arregui A | 2011Last years several mutations that can be corrected by the exon-skipping technique have been described in Duchenne dystrophy. In LGMD2A, however, all the mutations described to date do not seem to be good candidates for the RNA reparation technol[...]Article
AFM-TELETHON 2011Spinal muscular atrophy (SMA), a recessive autosomal disorder, is one of the most common genetic causes of death in childhood. It is caused by mutations of the survival motor neuron (SMN) gene. We previously reported that Lentiviral vector expre[...]Article
Cowling B ; Koutsopoulos O ; Zivkovic I ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]Article
Kossler N ; Mundlos S ; Kolanczyk M | 2011Neurofibromatosis type I (NF1) is an inheritable disease caused by mutations in the NF1 gene encoding a Ras-GAP protein that negatively regulates Ras signalling.Besides neuroectodermal malformations and tumours, the skeletal system is often affe[...]Article
Amoasii L ; Tronchere H ; Tomczak K ; Schultz P ; Beggs AH ; Payrastre B ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]Article
AFM-TELETHON 2011Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising as result of mutations in different NMJ proteins. CMS are a very heterogeneous group of disorders; at present, mutations in more than 1[...]Article
Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Multiple associations of intermediate filament proteins form a network to increa[...]Article
Nguyen K ; Bernard R ; Walrafen P ; Attarian S ; Hayashi Y ; Pouget J ; Nishino I ; Krahn M ; Helmbacher F | AFM-TELETHON | 2011Facio-scapulo-humeral dystrophy (FSHD), including muscle and non-muscle features, is usually associated with the contraction of a repeat array (D4Z4) in the subtelomeric region of chromosome 4q (4q35). Because of a non-pathogenic variant of 4q a[...]Article
Foust K ; McGovern V ; Poresnsky P ; Bevan A ; Duque S ; Le T ; Iyer C ; Laporte A ; Alwine I ; Mitrpant C ; Wilton S ; Kaspar B | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is caused by loss of the SMN1 gene and retention of SMN2 which results in low SMN protein levels. We have mimicked this situation in mice creating mice with SMA. SMA mice can be corrected by expression of SMN in the[...]Article
Belicchi M ; Razini P ; Farini A ; Meregalli M ; Villa C ; Bresolin N ; Torrente Y | 2011Adult stem cells reside in all tissues, where they maintain homeostatic conditions and respond to injuries. These cells are regulated and supported by the surrounding microenvironment, called stem cell "niche", composed by cellular and molecular[...]Article
Gruszczynski C ; Ziaei S ; Griffith G ; Precigout G ; Vulin A ; Dreyfus P ; Voit T ; Garcia L | 2011The analysis of DMD/BMD databases, which include patient records have allowed to assess the proportion of DMD patients that is eligible for exon skipping strategies as well as to appraise the impact of various exon skipping events. Among them, t[...]Article
Tanganyika-de Winter C ; van Putten M ; Karnaoek T ; van Deutekom J ; van Ommen GJ | AFM-TELETHON | 2011Antisense-mediated reading frame restoration is one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). It uses antisense oligonucleotides (AONs) to induce exon skipping during pre-mRNA splicing of mutated dystrop[...]Article
Barbe C ; Calmus A ; Reveillere C ; Hardouin JB ; Tiffreau V ; Richard I ; Rohellec EL ; Bassez G ; Minh-Muzeaux S ; Novella JL ; Wolak A ; Drame M ; Pereon Y ; Morrone I ; Jolly D | 2011Health related quality of life (HRQoL) measures estimate interventions in health efficiency.This paper reports the first indispensable phase for the construction and validation of a HRQoL measure in patients with slowly neuromuscular disease (NM[...]Article
Testerink J ; Krishnan R ; Offringa C ; Bagowski C ; Van der Laarse W | 2011In vivo immobilization of muscle at extended length, stimulates IGF-1 expression and induces hypertrophy, however, the mechanisms underlying the high muscle strain induced IGF-1 expression and hypertrophy are unknown. The aim of this study was t[...]Article
Delavaud A ; Gentes G ; Picard B | 2011In a previous study, we have identified the canonical Wnt signaling pathway as a putative target for inactivation of myostatin (MSTN) in mice. Here1 we have analysed the Mouse WNT signaling pathway in MSTN-null vs wild-type mice (n=5 animals/gro[...]Article
Cluet D ; Drouin E ; Thomas JL ; Gangloff YG ; Schaeffer L ; Zoli M ; Rudkin B ; Ciciliot S ; Ding YD ; Yuan CG ; Schiaffino S | 2011Calcineurin A(CnA), a serine-threonine phosphatase, has been identified as a crucial mediator for reversing muscle degeneration due to its role in the control of satellite cell differentiation as well as myofiber growth and maturation. This has [...]Article
AFM-TELETHON 2011The number of genes associated with distal myopathies, i.e. muscle diseases showing a predominant distal weakness at onset or throughout the disease evolution, continues to increase. Currently 20 different entities of distal myopathy have been g[...]Article
Krahn M ; Dubourg O ; Bernard R ; Salort-Campana E ; Pascal L ; Maisonobe T ; Pénisson-Besnier I ; Pouget J ; Sacconi S ; Stojkovic T ; Urtizberea JA | AFM-TELETHON | 2011Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. In France, among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-aetlymann[...]Article
Delague V ; Bourgeois P ; Krahn M ; Cossee M ; Orrhant L ; Leturcq F ; Chelly J ; Guittard C ; Beroud C ; Allamand V ; Bonne G ; Nelson I ; Richard P ; Voit T | 2011Currently, in most laboratories, molecular explorations in neuromuscular disorders (NMDs) are based on a differential molecular genotyping by a complex and time consuming gene by gene approach. As a consequence, it is estimated that 35-50 % of p[...]Article
AFM-TELETHON 2011Although our understanding of the biology of pluripotent stem cells has expanded exponentially in the past few years, the translational arm of stem cell science is in a relatively primitive state. In the cardiovascular system, a number of clinic[...]Article
Stojkovic T ; Maisonobe T ; Kolev I ; Wardi R ; Vicart S ; Dubourg O ; Pradat PF | 2011Objective : To report a case of Dropped Head Syndrome (DHS) with initial presentation suggestive of amyotrophic lateral sclerosis (ALS) and that led to the diagnosis of Centronuclear Myopathy (CM).Background : Isolated or prominent weakness of c[...]Article
Lostal W ; Bartoli M ; Bourg N ; Krahn M ; Pryadkina M ; Borel P ; Suel L ; Roche J ; Stockholm D ; Bloch R ; Bashir R ; Richard I | 2011Carinne Roudaut1, William Lostal1, Marc Bartoli4, Nathalie Bourg1, Martin Krahn4, Marina Pryadkina1, Perrine Borel1, Laurence Suel1, Joseph Roche2, Daniel Stockholm1 Robert Bloch2, Nicolas Levy4, Rumaisa Bashir3, Isabelle Richard11) Genethon, CN[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cardani R ; Greco S ; Sarra-Ferraris G ; Bugiardini E ; Meola G ; Martelli F | 2011Myotonic dystrophy type 1(DM1) is a dominantly inherited multisystemic disorder affecting skeletal muscle, heart, eye, and the endocrine system. DM1 is caused by expansion of a CTG repeat in the 3'UTR of DMPK gene. This genetic lesion leads to t[...]Article
Mitchell A ; La Riviere T ; Lipscombe L ; Piggott R ; Parkin C ; Miller G ; Winder S | 2011Dystroglycan (DG) is a transmembrane glycoprotein, which in skeletal muscle forms a central role in the dystrophin-associated glycoprotein complex (DGC). Thiscomplex links dystrophin to the extracellular matrix, helping to provide stability to m[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Gourdon G | 2011La dystrophie myotonique de Steinert (DM1), maladie neuromusculaire la plus fréquente de l'adulte est une affection multisystémique caractérisée par une myotonie et une détérioration progressive des fonctions neuromusculaires. Il n'existe à l'he[...]Article
Larcher T ; François V ; Le Guiner C ; Deschamps JY ; Guigand L ; Dutilleul M ; Betti E ; Montus M ; Servais L ; 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
Toussaint A ; Beugnet C ; De Barace C ; Toutain A ; Raynaud M ; Marcorelles P ; Pasquier L ; Chauvel-Lebreton J ; Benyaou R ; France L ; Chelly J ; Desguerre I | 2011Aim: to define molecular basis underlying different clinical phenotypes and of symptomatic DMD carriers at pediatric age.Methods: 26 cases of early symptomatic DMDcarriers followed in the french neuromuscular network were investigated. We report[...]Article
Early left ventricular dysfunction revealed in GRMD dogs bypost-processing of cine flash NMR imaging
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gilles R ; Thibaud JL ; Toussaint M ; Blot S ; Carlier PG | 2011Background. Duchenne muscular dystrophy (DMD) due to dystrophin deficiency leads to death by heart failure in nearly 30% of cases. An early detection of myocardial abnormalities in these patients would help in the optimization of their managemen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nicolas A ; Lucchetti-Miganeh C ; Barloy-Hubler F ; Le Rumeur E | 2011Dystrophin, encoded by the largest DMD human gene, is a sarcolemmal protein that is ubiquiterious and found predominantly in muscle and nervous cells. Dystrophin iscomposed of 3685 residues and is constituted by various structural regions. The l[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Krasilnikova J ; Telysheva G ; Dizhbite T ; Bikovens O ; Sheibak V ; Ostrovskaja O ; Hulten L | 2011Myopathology has dysmetabolic and inflammatory disorders in pathogeneses incl. toxic cardiomyophathy and cardiomyophathy in the case of patients obesity. Plant originated products remain today an undiminished source of new pharmaceuticals. For t[...]