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AFM-TELETHON
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Available items(s) from this publisher (1531)
Article
Karine C ; Karine C ; Carinne R ; Suel L ; Vihola A ; Florence L ; Monjaret F ; Udd B | AFM-TELETHON | 2011Genetic defects in Calpain 3 leads to Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). There is no treatment for this disease to date. We previously evaluated the potential of recombinant adeno-associated virus (rAAV) vectors for gene therapy in[...]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)) ; 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
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
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
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
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
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
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
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)) ; 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)) ; 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)) ; 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 [...]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[...]AFM Publication
Les canalopathies musculaires sont des maladies génétiques rares. Il en existe deux grandes familles : les paralysies périodiques et les syndromes myotoniques non dystrophiques. Elles ont en commun d’être liées à des mutations de gènes qui coden[...]AFM Publication
Affections génétiques rares, les myotonies du canal sodium font partie des canalopathies musculaires, une famille de maladies caractérisées par une atteinte des canaux ioniques voltage-dépendants. Elles regroupent différents syndromes pour lesqu[...]AFM Publication
Les myotonies congénitales sont des affections génétiques rares. Elles font partie des canalopathies musculaires, une famille de maladies caractérisées par une atteinte des canaux ioniques voltage-dépendants. Ces protéines transmembranaires joue[...]AFM Publication
Les paralysies périodiques sont des affections génétiques rares. Elles font partie des canalopathies musculaires, une famille de maladies caractérisées par une atteinte des canaux ioniques voltage-dépendants. Ces protéines transmembranaires joue[...]AFM Publication
La paramyotonie congénitale est une affection génétique rare. Elle fait partie des canalopathies musculaires, une famille de maladies caractérisées par une atteinte des canaux ioniques voltage-dépendants. Ces structures protéiques transmembranai[...]AFM Publication
Ce rapport a pour objectif de lister et documenter les produits industrialisés et services disponibles pour la compensation du membre supérieur actuellement sur le marché à minima européen. La première partie fait un point sur la prise en charge[...]AFM Publication
Article
SOMMAIRE p 3 - ÉDITORIAL HISTORIQUE/HISTORICAL NOTES p 5-10 - L'oeuvre de Jules Dejerine dans les maladies neuromusculaires Jules Dejerine's contribution to neuromuscular disorders Michel Fardeau PHYSIOLOGIE/PHYSIOLOGY p 11-13 - A p[...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)