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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[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Repele A ; Rossi C ; Gastaldello A ; Al-Musawi S ; Stickland N ; Campanella M | AFM-TELETHON | 2011Cell therapy represents a valid tool for tissue replacement, in particular in the contest of muscle dystrophies or structural defects. According to recent studies, satellite cells (SCs) seem to be divided into two subpopulations: one of committe[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Zupan A | AFM-TELETHON | 2011INTRODUCTION Swimming and other kinds of water exercise are highly suitable forms of recreation for people with any type of physical disability. The physical properties of water facilitate movement and for some people water represents the only e[...]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[...]Publication AFM
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
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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Ledoux I ; Behin A ; Stojkovic T ; Laforet P | AFM-TELETHON | 2011The Grip Test was created to develop a standardized non-ischemic forearm-exercise test for a safe screening of patients with exercise intolerance. In only one session, the maximum grip strength, the fatigue resistance and the muscle metabolism d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guiraud-Dogan C ; Hamroun D ; Beroud C ; Eymard B ; Bassez G | AFM-TELETHON | 2011Myotonic dystrophy (DM) is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. Such variability together with multisystemic involvement creates particular challenges for both clinical management and design of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sirvent P ; Ennequin G ; Gerbaix M ; Guillet C ; Masgrau A ; Courteix D ; Metz L | AFM-TELETHON | 2011Neuregulin was initially described as a neurotrophic factor involved in the formation of the neuromuscular junction in skeletal muscle. However, in recent years, neuregulin has been reported to be a myokine that exerts relevant effects on the re[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nguyen K ; Walrafen P ; Bernard R ; Attarian S ; Chaix C ; Vovan C ; Renard E ; Pouget J ; Vannier A ; Bensimon A | AFM-TELETHON | 2011The genetic modifications associated with facioscapulohumeral dystrophy (FSHD), one of the most common hereditary muscular disorders are complex, including mainly the contraction of a D4Z4 repeat array at the 4q35 subtelomeric region together wi[...]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)) ; Leonardis L ; de Greef J ; Lemmers R | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is linked in more than 95% of cases to D4Z4 repeat contraction on chromosome 4q35 (FSHD1). In patients with a typical clinical presentation but without D4Z4 repeat deletions, loss of DNA methylation [...]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
The RNA-binding protein STAUFEN1 is increased in DM1 skeletal muscle and regulates PRE-MRNA splicing
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ravel Chapuis A ; Bélanger G ; Yadava R ; Mahadevan M ; Desgroseillers L ; Coté J ; Jasmin B | AFM-TELETHON | 2011Myotonic Dystrophy (DM1) is caused by an expansion of CTG repeats in the 3' untranslated region (3'UTR) of DMPK mRNA. The expanded mRNA aggregates in the nucleus and becomes toxic to cells by sequestering and/or misregulating RNA-binding protein[...]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
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rizzato V ; Fappi A ; Xavier G ; Godoy T ; Bonten E ; van de Vlekkert D ; Chadi G ; d'Azzo A ; Zanoteli E | AFM-TELETHON | 2011Lysosomal neuraminidase (NEU1) is the glycosidase responsible for the catabolism of sialic acid-containing glycoconjugates. A deficiency of this enzyme is associated with the lysosomal storage disease sialidosis. Children affected by this diseas[...]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)) ; Hébert L ; Puymirat J ; Saulnier J | AFM-TELETHON | 2011Introduction. In Myotonic Dystrophy type 1 (DM1), few consensuses have emerged with regard to muscle strength impairments, and level of function. Distal weakness first appears and is usually identified after 9 to 10 years' duration of the illnes[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Prevel N ; Allenbach Y ; Herson S ; Klatzmann D ; Benveniste O | AFM-TELETHON | 2011Introduction:Polymyositis (PM) and Inclusion body myositis (IBM) are inflammatory myopathies caraterized by invaded muscle fibers by autoreactive CD8+ T cells. Immunosupressive drugs used in PM are not always efficacious and have no effect on IB[...]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)) ; Le Panse R ; Cufi P ; Weiss J ; Dragin-Mamavi N ; Berrih-Aknin S | AFM-TELETHON | 2011Myasthenia Gravis (MG) is mainly due to autoantibodies against the nicotinic acetylcholine receptor (AChR) at the postsynaptic membrane that cause loss of functional AChR and disturb neuromuscular transmission. The thymus is clearly involved in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schepens I ; Poliakova K ; Borradori L | AFM-TELETHON | 2011The dystonin gene encodes several tissue selective BPAG1 protein isoforms, issued from alternative splicing. In skeletal muscle, the main isoform is BPAG1-b, a 830kDa protein that presents the hallmarks of both spectrin and plakin families. The [...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)