Détail de l'éditeur
AFM-TELETHON
Commentaire :
Collections rattachées :
Autorités liées :
|
Documents disponibles chez cet éditeur (1522)
| Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Grassi F ; Bigi R ; Deflorio C ; Fucile S | AFM-TELETHON | 2011In slow-channel congenital myasthenia (CM), excessive Ca2+ influx through mutant endplate acetylcholine receptor (AChR) channels leads to endplate degeneration and myasthenic symptoms. The high Ca2+ permeability of human AChR-channels, which is [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Tajsharghi H | AFM-TELETHON | 2011Saba Abdul-Hussein, Homa Tajsharghi Department of Pathology, Institute of Biomedicine, University of Gothenburg, 413 45 Gothenburg, Sweden In vertebrates skeletal muscle is found throughout the body and forms during the entire life span. Adult s[...]Publication AFM
Sommaire : Préambule L’organisation de la future année scolaire Le choix et la recherche de l’école L’évaluation des besoins Les outils de l’évaluation La mise en pratique de l’accompagnement Annexes Grille d’évaluation des besoins [...]Article
Sharma MC ; Jha P ; Sarkar C ; Faruq M ; Suri V ; Bhatia R ; Gulati S ; Husain M | AFM-TELETHON | 2011Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutation in the gene encoding for calpain-3 resulting in total or partial loss of protein. Diagnosis of LGMD2A, the most prevalent form of LGMD, is established by analyzing calpain-3 pro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Huchet-Cadiou C ; Carré-Pierrat M ; Lafoux A ; Roux A ; Tanniou G ; Chambonnier L ; Ségalat L | AFM-TELETHON | 2011Screening of drugs in mdx miceCorinne Huchet-Cadiou2,Ma Carre-Pierrat1, Aude Lafoux2, Antoine Roux2, Guillaume Tanniou3, Lucie Chambonnier1 and Laurent Slat11 CGMC, CNRS-UMR 5534, Universitaude Bernard Lyon-1, 69622 Villeurbanne, France; 2 UMR I[...]Article
AFM-TELETHON 2011Myotonic 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
Bohm J ; Gras S ; Müller J ; Plewniak F ; Keime C ; Vicaire S ; Jost B ; Mandel JL ; Biancalana V ; Laporte J | AFM-TELETHON | 2011Neuromuscular diseases (NMD) are debilitating diseases with a strong impact on the individuals and the society. Despite tremendous research and clinical efforts, the molecular causes of NMD are still unknown for about 40% of patients, and additi[...]Article
AFM-TELETHON 2011Maintenance of muscle mass and physiology is essential for general health. Disuse (e.g. immobilization, denervation, and microgravity), inherited neuromuscular disorders, and aging all result in debilitating loss of skeletal muscle. Given the si[...]Article
Kabzinska D ; Kabzinska D ; Niemann A ; Drac H ; Huber N ; Suter U ; Hausmanowa-Petrusewicz I | AFM-TELETHON | 2011Nonsense-truncating mutations acting by a loss of function mechanism, located in the GDAP1 gene, have been thought to be associated with severe forms of AR-CMT2 disease.The patients harboring nonsense GDAP1 gene mutations usually manifest with f[...]Article
AFM-TELETHON 2011Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is an autosomal recessive debilitating disorder affecting young adults with the age of onset ranging from 15 years to late thirties. The disease [...]Article
AFM-TELETHON 2011Skeletal muscle atrophy is a significant co-morbidity seen in a variety of diseases, including Congestive Heart Failure, renal failure, cancer, and AIDS. Even during simple muscle inactivity, such as when a cast is put on a limb, the affected mu[...]Article
Six1 and Six4 are homeoproteins of the Six/sine oculis family. These proteins are expressed continuously during muscle development: in the dermomyotomal hypaxial myogenic progenitors, they control Pax3 expression and myogenic progenitors fate; i[...]Article
Mesirca P ; Torrente A ; Arsic N ; Nargeot J ; Mangoni M ; Lamb N ; Fernandez A | AFM-TELETHON | 2011Adult stem cells can be isolated from skeletal muscle and display spontanous multi-lineage differentiation including towards cardiac lineage. (Arsic et al. 2008)*. Before differentiation and in addition to Sca-1 and Bcrp1/ABCG2, skeletal Muscle-[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Robin V ; Ittig D ; Voit T ; Leumann CJ ; Garcia L | AFM-TELETHON | 2011Spinal muscular atrophy is a recessive disease caused by mutations in the SMN1 gene, which encodes a protein (SMN) involved in RNA processing whose absence dramatically affects the survival of motor neurons. In Man, the severity of the disease i[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Soheili T ; Gicquel Zouida E ; Bartoli M ; Richard I | AFM-TELETHON | 2011Sarcoglycanopathies are recessive muscular disorders caused by defects in a group of transmembrane proteins, known as sarcoglycans, and part of the dystrophinassociated complex. Mutations in the alpha, beta, gamma and delta sarcoglycan genes lea[...]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
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)) ; Schumperli D ; Nlend Nlend R ; Huo Q ; Neve A ; Cudré-Mauroux F ; Meyer K ; Heller M ; Voit T ; Saxena S | AFM-TELETHON | 2011Spinal Muscular Atrophy (SMA) is characterised by the degeneration of motor neurons in the spinal cord and results from a loss of function (usually a deletion) of the SMN1 (Survival Motor-Neuron 1) gene. The highly similar SMN2 gene partly compe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jain N ; Shah A | AFM-TELETHON | 2011Objective: 62 consecutive patients with myasthenia gravis (MG) seen between 2004 and 2007 were analyzed for epidemiological characteristics, clinical features, yield of diagnostic tests and outcome in relation to various therapeutic options used[...]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)) ; Hogrel JY ; Decostre V ; Canal A ; Ledoux I ; Sari S ; Bloch C ; Benveniste O | AFM-TELETHON | 2011Inclusion body myositis (IBM) is a late-onset inflammatory myopathy which is the most common occurring over the age of 50 years. New emerging treatments are being to be tested in a near future and the choice of robust and reliable outcome measur[...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)