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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Berkholz J ; Munz B ; Berger F ; Breustedt T | 2011Myofilament organization into the highly structured sarcomeres requires the accurate assembly, folding and interaction of newly synthesized sarcomeric proteins. This complex process, termed myofibrillogenesis, occurs during striated muscle devel[...]Article
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutation of the SMN1 gene that results in reduced full-length SMN protein abundance. All patients have SMN2, a centromeric copy of the gene that predominantly encodes a truncate[...]Article
AFM-TELETHON 2011Environment of stem cells plays a crucial role in controlling their fate: quiescence, proliferation, differentiation, self-renewal. Environment of satellite cells comprise endothelial cells, periendothelial cells, immune cells and fibroblastic c[...]Article
Spinal muscular atrophies (SMA) are characterized by the degeneration of lower motor neurons, leading to progressive motor paralysis associated with muscular atrophy. SMA is a frequent recessive autosomal disorder caused by mutations of the surv[...]Article
s-IBM, the most common muscle disease of older persons, is complex and multifactorial. Aging of the muscle-fiber cellular milieu appears to be the main risk factor. Also important pathogenically are various detrimental forces within the muscle-f[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Buendia B ; Attanda W ; Duband-Goulet I ; Vadrot N ; Cabet E ; Ostlund C ; Worman H ; Zinn-Justin S | AFM-TELETHON | 2011Prelamin A and mature lamin A are A-type lamins, nuclear intermediate filament proteins that play a role in organizing the chromatin structure and gene expression. Lamin A results from the proteolytic processing of prelamin A. It is shorter (646[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Willmann R | 2011Disease-specific animal models offer the possibility to test the efficacy of new therapeutic interventions for neuromuscular diseases. A large plethora of data on animal models is generated every year reporting important therapeutic effects base[...]Article
Farini A ; Belicchi M ; Parolini D ; Sitzia C ; Cassinelli L ; Del Fraro G ; Razini P ; Angeloni V ; Jardim L ; da Silva Bizario J ; Garcia L ; Torrente I | AFM-TELETHON | 2011In DMD, skeletal and cardiac muscles are affected, leading to wheelchair dependency, respiratory failure and premature death. Recent advances have pointed out a variety of possible therapeutic approaches. A combination of these strategies might [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Darbellay B ; Konig K ; Arnaudeau S ; Bader C ; Bernheim L | 2011Cytosolic Ca2+ signals encoded by repetitive Ca2+ releases rely on two processes to refill Ca2+ stores: (i) Ca2+ re-uptake from the cytosol and (ii) activation of a Ca2+ influx via Store Operated Calcium Entry (SOCE). SOCE activation is, however[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rucker-Martin C ; Gouadon E ; Lambert V ; Renaud JF | 2011Cell therapy appears as a new mean for the prevention or treatment of cardiac dysfunction. To analyse the relationship between cardiac progenitor cells and host cells: adult cardiac myocytes and fibroblasts, we developed an ex vivo model.Primate[...]Article
Delta-sarcoglycan deficiency induces muscular dystrophy and dilated cardiomyopathy (DCM) through pathological mechanisms that remain elusive. Lack of dystrophin, an other sarcolemmal protein, induces skeletal muscle fibers Ca2+ overload that may[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brouilly N ; Pierson L ; Lecroisey C ; Schwab Y ; Labouesse M ; Gieseler K | 2011Muscle degeneration is a progressive process, which ultimately leads to muscle cell death. It can be induced by many different primary genetic defects. We use the genetic model organism Caenorhabditis elegans to investigate the process of muscle[...]Article
From The Gene Therapy Center, The Center for Vaccines and Immunity, and the Department of Radiology at Nationwide Children's Hospital and the Powell Gene Therapy Center at the University of FloridaGene replacement is a therapeutic strategy suita[...]Article
Joubert R ; Joubert R ; Hammer C ; Guerchet N ; Tanniou G ; Poulard K ; Daniele N ; Buj Bello A | AFM-TELETHON | 2011Centronuclear Myopathies are a group of muscular disorders characterized by the presence of abnormally large nuclei centrally localized within hypotrophic myofibres. Amongst this family of diseases, myotubular myopathy (XLMTM), the most severe c[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dorchies O ; Reutenauer-Patte J ; Petermann O ; Patthey-Vuadens O ; Gayi E ; Ruegg U | 2011To date, no cure exists for Duchenne muscular dystrophy, a fatal muscle disorder. Recently, we evaluated tamoxifen (TAM), a selective estrogen receptor modulator (SERM), used to treat certain breast cancers, on the mdx5Cv dystrophic mouse. We fo[...]Article
AFM-TELETHON 2011The Quebec/French DM network was created in 2005 to evaluate RNA-based gene therapy for DM1. We have characterized a mouse model of DM1 carrying 1200 CTG repeats (DMSXL mice) and validated a standardized protocol used for preclinical therapeutic[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jaimovich E ; Valladares D ; Casas M ; Jorquera G ; Fernandez R ; Altamirano F ; Figueroa R ; Buvinic S ; Juretic N | 2011Tetanic electrical stimulation of muscle cells elicit, in addition to contraction, a series of events characterized by ATP release through pannexin1 hemichannels, activation of purinergic P2Y receptors, IP3 production and slow calcium transients[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dieterich K ; Fabre B ; Lallemand G ; Jouk PS ; Monnier N ; Lunardi J ; Marty I | 2011Arthrogryposis multiplex congenita (AMC) is caused by reduced fetal mouvements in utero. It describes congenital joint contractures present in more than one body area at birth. Neuromuscular types of AMC are basically linked to anterior horn cel[...]Article
AFM-TELETHON 2011RNA-modulating therapeutics such as antisense oligonucleotides (AONs) provide an innovative tool for targeted modulation of gene expression and/or to correct mutated mRNA causing life threatening disorders. An increasing number of studies show t[...]Article
Leroy B ; Ansseau E ; Pire E ; Faille J ; Leclercq T ; Charron S ; Vanderplanck C ; Wauters A ; Turky A ; Laoudj-Chenivesse D ; Coppée F ; Wattiez R ; Belayew A | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions within the D4Z4 repeat array in 4q35. We have identified the DUX4 double homeobox gene within each D4Z4 unit (1). It encodes a transcription factor that is expressed in FSHD bu[...]Article
Amirouche A ; Amirouche A ; Bélanger G ; Tadesse H ; Miura P ; Coriati A ; Lunde J ; Coté J | AFM-TELETHON | 2011DMD is caused by mutations/deletions in the X-linked dystrophin gene. Several studies have shown that the dystrophin homologue, utrophin, can functionally compensate for the lack of dystrophin in muscle when expressed at appropriate levels and a[...]Article
AFM-TELETHON 2011Embryonic stem (ES) cells differentiate into multiple lineages during in vitro embryoid body (EB) formation. This makes the ES/EB system a powerful tool to study early embryonic developmental pathways and to generate specific cell populations fo[...]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 plasticity of Smooth Muscle Cells (SMCs) is a hallmark of these muscular type. Under exogenous stimulation, SMCs trigger their dedifferentiation and conduct to their proliferation. Bone Morphogenetic Protein (BMP) pathway was shown to contro[...]Article
AFM-TELETHON 2011Inhibition of signalling via the activin receptor IIB (ActRIIB) is considered as a therapeutic strategy for Duchenne muscular dystrophy. However, the role of ActRIIB signalling on muscle function and metabolism is not entirely understood. Myosta[...]Article
AFM-TELETHON 2011Progressive muscle loss is a common feature of different genetic and acquired muscle diseases for which no pharmacological treatment is presently available. Promoting muscle growth or blocking catabolic pathways are possible therapeutic approach[...]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
The compilation of mutational and clinical data from patients affected with dysferlinopathy is an essential step towards a better understanding of the natural course of this disease, and possible inclusion in future therapeutic clinical trials. [...]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
Objective: Dysferlin is a transmembrane protein implicated in surface membrane repair of muscle cells. Mutations in dysferlin cause the progressive muscular dystrophies Miyoshi Myopathy, Limb Girdle Muscular Dystrophy 2B, and distal anterior com[...]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)) ; 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
AFM-TELETHON 2011Duchenne muscular dystrophy is due to the absence of dystrophin, a cytoskeletal protein associated with plasma membrane of skeletal muscle cells. This causes a severe muscle degeneration. In normal cells, dystrophin is associated, via its carbox[...]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
AFM-TELETHON 2011Mutations in the Transient Receptor Potential Vanilloid subtype 4 (TRPV4) gene, that encodes a Ca2+ permeable non-selective cation channel, have been recently associated with a broad spectrum of inherited neurological and orthopedic diseases. Fo[...]Article
AFM-TELETHON 2011Facioscapulohumeral muscular dystrophy (FSHD) affects 1:20,000 people world wide. FSHD is clinically characterized by a progressive weakness and wasting of the facial, shoulder and upper arm muscles. Non-muscular symptoms may include sensorineur[...]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
AFM-TELETHON 2011Muscle channelopathies are a group of disorders which manifest by either weakness or stiffness resulting in periodic paralysis or myotonia. Improvements in diagnosis have now entered into clinical practice and are routinely provided to patients,[...]Article
AFM-TELETHON 2011Myofibrillar myopathies (MFM) comprise sporadic and familial neuromuscular conditions of considerable clinical and genetic heterogeneity. Desmin-positive sarcoplasmic protein aggregates and signs of myofibrillar degeneration are the pathomorphol[...]Article
Myotonic Dystrophy type 1 (DM1) also called Steinert disease is one of the most common form of inherited neuromuscular disorders in adults characterized by progressive muscle weakness and wasting, myotonia as well as many other multisystemicdefe[...]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)) ; 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)) ; 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)) ; 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
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant hereditary disease with a prevalence of 7/100,000 births. It is associated with a partial deletion in the 4q35 D4Z4 repeat array that alters chromatin structure and induces gene express[...]Article
Duveau AC ; Pelletreau S | 11/2010Ce chapitre se divise en deux parties : - Le groupe Mornay "Les aidants familiaux ont besoin de répit". - Première journée nationale des aidants familiaux : Concilier vie professionnelle et aide à un proche. Pour en savoir plus : Groupe Morn[...]Rapport institutionnel
Journées territoriales de l'accessibilité 2010 | Paris : Ministère de l'Ecologie, de l'énergie, du developpement durable et de la mer | 10/2010Par courrier en date du 9 avril 2010, le ministre d'État et trois de ses secrétaires d'État ont sollicité les Préfets afin qu'ils mobilisent les multiples acteurs, publics et privés, responsables en matière d’accessibilité par l'organisation de [...]Livre
Cet ouvrage bilingue français/anglais est le fruit du colloque organisé à l'Université Jean Moulin - Lyon 3, le 4 Juin 2009. Il analyse le nouveau cadre et élabore des stratégies sur le nouveau cadre européen du droit international de la proprié[...]Article
Edouard P ; Bayle B ; d'Anjou MC ; Tardieu D ; Chabrier S ; Cottalorda J ; Dohin B | 06/2010Livre
Eurobiomed (29-30 Octobre 2009; Montpellier) ; Ayme S ; Schwebig A ; Meyer F ; Tchernia G ; Le Henanff G ; Roussille B ; Kremp O | Paris : Masson | 04/2010Ce numéro spécial de la Presse Médicale reprend les conférences et les échanges qui ont eu lieu au cours du colloque Eurobiomed sur la recherche et le développement pour les Maladies rares et orphelines, à Montpellier le 29 et 30 octobre 2009. L[...]Article
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Comment vit-on le regard d'autrui lorsqu'on est adolescent et atteint d'un handicap moteur ? Quatre jeunes livrent leur témoignage et leurs souhaits pour un monde meilleur !Rapport institutionnel
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EURORDIS : "Pourquoi investir dans la recherche sur les maladies rares ?" Poursuivant son action de sensibilisation des chercheurs, des décideurs et des politiques pour une recherche accrue et de meilleure qualité sur les maladies rares, EURORDI[...]Article
Pour visualiser les articles en texte intégral Cahiers de Myologie n°3Article
Journée nationale organisée par l'AFM-Téléthon en partenariat avec le réseau des consultations spécialisées. Cette journée s'est déroulée le 25/09/2010 dans 23 villes de France. Thématique : Les progrès majeurs réalisés dans le champ des maladi[...]Article
Plus de 350 participants, originaires d'une trentaine de pays, se sont réunis à Bruxelles en novembre dernier sous l'égide de TREAT-NMD. L'objectif de cette première conférence internationale était de favoriser la recherche collaborative sur les[...]Livre
Militantes, les femmes ? Certes, à en juger par l’ancienneté de leurs combats individuels et collectifs. Mais pourquoi faut-il qu’elles luttent et que, dans cette lutte, la référence à l’homme soit de quelque façon mentionnée ? Se faire entendre[...]Livre
Ce document fait le point sur les réglementations dans le domaine de la santé des maladies rares en 2010, discutées lors de la 5th European Conference on Rare Diseases, qui s'est tenue à Cracovie, du 13 au 15 Mai 2010. Il est présenté en 6 livre[...]Article
Roper H ; Quinlivan R | 2010Accès au résumé PubMed / to PubMed abstract 27/11/2009 - Amyotrophie spinale infantile de type I : le consensus anglais Les amyotrophies spinales infantiles (ou SMA) représentent la deuxième cause la plus fréquente de maladie neuromusc[...]Livre
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Sommaire : Accueil des participants p3 Les outils de partage et de communication interne sur le web p4 I. Les outils disponibles et leurs usages p4 II. Les outils de surveillance des avancées de la recherche p9 III. Les outils mis à dis[...]Article
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Steps forward in Pompe disease 3rd European Symposium (20-21/11/2009; Munich (Allemagne)) ; Carlier RY ; Laforet P ; Mompoint DM ; Wary C ; Orlikowski D | 2010Accès au résumé