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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Repele A ; Piccoli M ; Franzin C ; Urbani L ; Zanon GF ; Milan G ; Vettor R ; Basso G ; Pozzobon M | AFM-TELETHON | 2011Oxygen has been demonstrated to influence proliferation and myotubes differentiation. However, the mechanism of influence is mostly unknown. We have recently reported that satellite cells may be comprised of two distinct populations of cells dis[...]Article
AFM-TELETHON 2011Null mutations in the dystrophin gene, leading to lack of the protein dystrophin are manifest most conspicuously in the form of myonecrotic lesions of the muscle fibres. These, in turn, are thought to activate inflammatory mechanisms and to driv[...]Article
Coppée F ; Ansseau E ; Tassin A ; Charron S ; Laoudj-Chenivesse D ; Wilton S ; Belayew A | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a prevalence of 7/100,000 birth. It is characterized by an antero-posterior and often asymmetric progression of muscle weakness first affecting the face, the sc[...]Article
Cassina P ; Cassina P ; Otsmane B ; Moumen A ; Seilhean D ; Meininger V ; Barbeito L ; Pettmann B ; Raoul C | AFM-TELETHON | 2011Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that primarily affects motoneurons in the brain and spinal cord. Dominant mutations in superoxide dismutase-1 (SOD1) cause a familial form of ALS. Mutant SOD1-damaged [...]Article
AFM-TELETHON 2011Skeletal muscle development, growth and regeneration rely on muscle stem cells. An important goal is to understand the source and the nature of the signals regulating these muscle stem cells during myogenesis. Intrinsic and extrinsic regulatory [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Kunz S ; Bigot A ; Zacharias U ; Mouly V ; Spuler S ; Cartaud J | AFM-TELETHON | 2011Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B and miyoshi myopathy. These muscular dystrophies are characterized by progressive muscle weakness. Dysferlin is known to play an essential role in skeletal muscle membrane r[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jacobson K ; Petermann O ; Ruegg U | AFM-TELETHON | 2011Duchenne muscular dystrophy is caused by the lack of dystrophin and characterized by membrane fragility and elevated levels of intracellular calcium. This increased calcium concentration aggravates the condition by stimulating proteolysis and ap[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; De Larichaudy J ; Vidal H ; Lefai E ; Nemoz G | AFM-TELETHON | 2011Muscle atrophy associated with a number of systemic diseases such as cancer constitutes a major health problem, due to its contribution to the deterioration of patient status and its impact on mortality. The primary cause of rapid muscle mass lo[...]Article
Pitx2 is a paired-related homeobox gene that is expressed in muscle progenitors during myogenesis. We previously have demonstrated that Pitx2c is the main Pitx2- isoform expressed in Sol8 myoblasts and overexpression of Pitx2c in Sol8 cells main[...]Article
AFM-TELETHON 2011Muscle satellite cells are mitotically quiescent in adult muscle but are activated immediately following muscle injury. Activated satellite cells proliferate and differentiate for supplying myonuclei, and also self-renew for maintaining satellit[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Konig S ; Brawand P ; Bernheim L | AFM-TELETHON | 2011Our work is based on human primary myoblast cultures derived from single satellite cells. In human, as in other species, it is well established that myoblast differentiation is mainly controlled by two families of transcription factors, the Myog[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vezain M ; Gérard B ; Drunat S ; Funalot B ; Fehrenbach S ; N’Guyen-Viet V ; Vallat JM ; Frebourg T ; Tosi M ; Martins A ; SaugierVeber P | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of alpha motor neurons in the anterior horn cells of the spinal cord, often appearing during early childhood. This disease results in mo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gicquel Zouida E ; Karine C ; Daniele N ; Richard I | AFM-TELETHON | 2011Evelyne Gicquel, Karine Charton, Nathalie Dani and Isabelle Richard.Gthon, 1 bis rue de l'Internationale, 91000 Evry, France.Limb Girdle Muscular Dystrophies (LGMD) constitute a group of myopathies affecting muscles of shoulder and pelvic girdle[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sharma MC ; Pathak P ; Kaushal S ; Sarkar C ; Suri V ; Mohd H ; Bhatia R ; Gulati S | AFM-TELETHON | 2011Context: Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutation in the gene encoding for calpain-3 resulting into total or partial loss of protein. Diagnosis of LGMD2A, the most prevalent form of LGMD, is obtained by analyzing calpa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Takada H ; Goto T ; Seikoh K ; Yoshinobu O ; Michio K | AFM-TELETHON | 2011BackgroundInsulin resistance (IR) is a characteristic feature of dysglycaemia in myotonic dystrophy type 1 (DM1). Although the abnormal splicing of insulin receptor mRNA in DM1 muscles reported, the mechanism of IR remained obscure. The aim of t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rafai MA ; Raji L ; Ibnkhribchia R ; Boulaajaj F ; Manaf S ; El Moutawakil B ; Slassi I | AFM-TELETHON | 2011INTRODUCTION : Neurological involevement during sarcoidosis are rare and varied. We report a case of a patient who presented a cranial pachymeningitis and the occurrence of local symptomatic muscular affection that allowed sarcoidosis' diagnosis[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rouger K ; Larcher T ; Dubreil L ; Deschamps JY ; Fromes Y ; Le Guiner C ; Jouvion G ; Delorme B ; Lieubeau B ; Ledevin M ; Zuber C ; Leroux I ; Guigand L ; Le Rumeur E ; Cherel Y | AFM-TELETHON | 2011Duchenne Muscular Dystrophy (DMD) is a progressive fatal X-linked recessive disorder of skeletal and cardiac muscles. It represents the most common muscular dystrophy, affecting one in 3,500 male births (Emery, 1991). It is characterized by the [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stenzel W | AFM-TELETHON | 2011Etiopathogenesis of sarcoidosis, a systemic granulomatous disease, still remains obscure. A multitude of organs affected by systemic sarcoidosis have been described. Skeletal muscles may also be affected, leading to myalgia and weakness. A work-[...]Livre
Le groupe de travail Maladies rares, composé de membres du Ministère de la Santé, du corps médical et d'associations de patients, a réalisé ce rapport dont le but est d'évaluer les problèmes et les besoins des personnes souffrant de maladies rar[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011INTRODUCTION:It has been estimated that more than one person in every 3000 has a serious disabling inherited neuromuscular disorder. There are several scales to measure the stages of motor decline in NMD. Motor Function Measure (MFM) applicable [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nazzal D ; Truffault F ; Bismuth J ; Berrih-Aknin S | AFM-TELETHON | 2011Regulatory CD4+CD25+ T cells prevent the activation of auto-reactive T cells and play a key role in the induction of peripheral tolerance. We recently showed that regulatory T (Treg) cells are severely defective in the thymus from patients with [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sadlaoud K | AFM-TELETHON | 2011Mechanisms underlying muscle spasticity: alterations of the neural network and inhibitory synaptic transmission after spinal cord injuryKarina Sadlaoud, Pascale Boulenguez, Patrice Coulon, Laurent Vinay and Hne BrasLaboratoire Plasticitysio-Path[...]Historique AFM
En 2000, 17 ans après les États-Unis, l'Union européenne, notamment sous l'impulsion des associations de malades, a mis en œuvre une réglementation européenne pour stimuler le développement de traitements pour les maladies rares. Dix ans après[...]Reco PNDS
Cette brochure détaille les différents lieux publics relevant de la commune. Pour chaque catégorie, des normes d'accessibilité aux personnes handicapées ou en situation de handicap sont listées.Livre
MFM-32 e MFM-20 danno una misura numerica delle capacità motorie di un soggetto affetto da patologia neuromuscolare. LE DIMENSIONI Gli items della MFM-32 e della MFM-20 sono raggruppati in 3 dimensioni: D1: stazione eretta e trasferimenti [...]Article
SRF (Serum Response Factor) is a MADS box transcription factor that regulates the expression of numerous genes involved in contraction, signaling or energy metabolism. Cardiac-specific Cre/loxP mediated inactivation of SRF leads to reduced contr[...]Article
Degerny C ; Pinna G ; Maury Y ; Kratassiouk G ; Mouly V ; Frandsen N ; Harel-Bellan A | AFM-TELETHON | 2011MicroRNAs (miRNAs) are key molecules in cell biology. Here, we used a genome-wide miRNA loss-of-function screen based on LNA antisense oligonucleotides in order to identify miRNAs that are essential for terminal differentiation of human skeletal[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fugier C ; Klein A ; Hammer C ; Vassilopoulos S ; Ivarsson Y ; Vignaud A ; Ferry A ; Messaddeq N ; Thibault C ; Garcia L ; Bassez G ; Laporte J ; Furling D ; Charlet Berguerand N | AFM-TELETHON | 2011Myotonic dystrophy (DM) is the most common muscular dystrophy in adults and comprises two genetically distinct forms, both of which are caused by expansions of microsatellite repeats. The expansion of a CTG repeat in the 3'-UTR of the DMPK gene [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Trollet C ; Anvar S ; Venema A ; Hargreaves I ; Foster K ; Vignaud A ; Ferry A ; Negroni E ; Gidaro T ; Hourde C ; Baraibar M ; Hoen P ; Davies J ; Rubinsztein D ; Heales S ; Mouly V ; van der Maarel S ; Raz V ; Butler Browne G ; Dickson G | AFM-TELETHON | 2011Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal dominant OPMD is caused by a short (GCG)8-13 expansions within the first exon of the poly(A) binding pr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Huguet A ; Medja F ; Nicole A ; Vignaud A ; Ferry A ; Guiraud-Dogan C ; Mousiel E ; Metzger F ; Sebille A ; Gomes Pereira M ; Puymirat J ; Bassez G ; Furling D ; Gourdon G | AFM-TELETHON | 2011Myotonic dystrophy type I (DM1) is a dominant disease, highly variable and associated with multisystemic symptoms. The adult onset form presents muscle weakness, myotonia, cardio-respiratory problems, cataracts, hypersomnia, hyperinsulinism, tes[...]Article
Muscle cell formation is a coordinated process of tissue-specific gene expression, proliferation and differentiation. In order to safeguard the developing progenitor cells against a prolonged proliferation or a premature differentiation, cell cy[...]Article
Erratico S ; Villa C ; Razini P ; Cassinelli LM ; Parolini D ; Meregalli M ; Belicchi M ; Torrente Y | AFM-TELETHON | 2011Peripheral blood is a promising alternative source of stem cells for transplantation for the treatment of different malignancies. Using CD133, as a marker of stemness, we identified a subpopulation of purified blood-derived stem cells which diff[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Segura L ; Escobar Cedillo RE | AFM-TELETHON | 2011Introduction: The motor sensory neuropathies Charcot Marie Tooth (CMT) can be classify genetically as type 1, 2 and x link chromosome, later can be divided in subtypes A, B and C based on the genotype. CMT is the most common hereditary neuropath[...]Article
Renou L ; Papadopoulos A ; Beuvin M ; Lacene E ; Arimura T ; Gruenbaum Y ; Bonne G | AFM-TELETHON | 2011LMNA gene encodes for lamins A/C, ubiquitous proteins of the nuclear envelope in post-mitotic cells. Lamin A/C are thought to have structural but also essential regulatory roles in various signalization pathways by interactions with transcriptio[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rome S ; Forterre A ; Chikh K ; Jalabert A ; Pesenti S ; Euthine V ; Nemoz G ; Lefai E ; Vidal H | AFM-TELETHON | 2011Exosomes are nanovesicles of endocytic origin secreted by different cell types including epithelial, hematopoietic, and some tumor cells. They are also present in some biological fluids such as serum, urine, breast milk, and bronchoalveolar lava[...]Article
AFM-TELETHON 2011Dystrophin, with its modular structure, and in particular its central domain made up of 24 spectrin-like repeat motifs, is a protein that can support the deletion of certain internal areas provided that the final reading frame is preserved. Taki[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sdika M ; Tonson A ; Cozzone PJ ; Bendahan D | AFM-TELETHON | 2011Introduction: Accurate muscle size quantification is essential to investigate muscle function related to exercise adaptation, ageing and neuromuscular pathologies. Currently, MRI muscle volume quantification is the gold standard; however this te[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rosa A ; Corona ED ; Jacquelin D | AFM-TELETHON | 2011MULTIPLE PROTEIN DOMAINS CONTRIBUTE TO NUCLEAR ENTRANCE OF DUX4 E. Daniel Corona, Daniela Jacquelin and Alberto L. RosaLaboratorio de Biologelular y Molecular, Fundacilende, Hipo Irigoyen 384, Cba, Argentina. Twelve years ago it was hypothesized[...]Article
During embryonic development and embryonic stem cell (ESC) differentiation, the different cells forming the mature heart arise from the differentiation of two types of multipotent cardiovascular progenitors (MCPs). Using mouse embryonic stem cel[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Trollet C ; Perie S ; Gidaro T ; Mamchaoui K ; Negroni E ; Bouazza B ; Svinartchouk F ; Blumen S ; Mouly V ; Lacau Saint Guily J ; Butler Browne G | AFM-TELETHON | 2011Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant inherited, slow progressing, late onset degenerative muscle disorder, characterized by progressive eyelid drooping (ptosis) and difficulties with swallowing (dysphagia). The phar[...]Article
Muscle proteins and cellular dynamics during somitogenesis and early myogenesis in zebrafish embryos
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ruf-Zamojski F ; Trinh L ; Megason S ; Trivedi V ; Fraser SE | AFM-TELETHON | 2011High-resolution cellular and molecular data from developing organisms has driven many of the advances in developmental biology. These same approaches, applied to muscle biology, should enable a better understanding of the key events of dynamics [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Feferman T ; Sylvain B ; Mélinée C ; Mouly V ; Tzartos S ; Fuchs S ; Souroujon M ; Berrih-Aknin S | AFM-TELETHON | 2011Anti-acetylcholine receptor (AChR) autoantibodies target the muscle in human spontaneous MG and its induced model experimental autoimmune MG (EAMG). The aim of the study was to identify the common and specific molecular signatures of the muscle [...]Article
Fugier C ; Vassilopoulos S ; Vignaud A ; Ferry A ; François V ; Precigout G ; Garcia L ; Butler-Browne GS ; Charlet Berguerand N ; Furling D | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. This disease is characterized, among other symptoms, by progressive muscle atrophy and weakness, myotonia and cardiac defects. DM1 is an autosomal dominant diseas[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rafai MA ; Manaf S ; Raji L ; Oumari S ; Boulaajaj F ; Ridai M ; El Moutawakil B ; Slassi I | AFM-TELETHON | 2011Introduction : Epidemiological data showed that 10-20% of myasthenic patients have a thymoma. Object: to report cases of myasthenia gravis revealing invasive thymoma, and to specify the particularities of the association myasthenia gravis-invasi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vohanka S ; Bednarik J ; Fajkusova L ; Sedlackova J | AFM-TELETHON | 2011Myotonic dystrophy type 1 (MD1) is an autosomal-dominant multisystemic disorder linked to a monoallelic expansion of the CTG n repeat in the 3 untranslated region of the DM protein kinase (DMPK) gene. Healthy individuals have repeats of n= 5-37,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vasseur S ; Mauda C | AFM-TELETHON | 2011Myobank-AFM at the Institut de Myologie: human tissue samples and byproducts at the disposal of the scientists in the field of neuromuscular diseases.Thomas Voit Maud Chapart Stane VasseurThe AFM tissue bank for research was created in 1996. It [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Liao H ; Adriouch S ; Authier FJ ; Boyer O ; Gherardi RK | AFM-TELETHON | 2011Myoinjury elicits an innate immune response with local generation of monocyte-derived "inflammatory" dendritic cells (Brigitte et al, Arthritis Rheum 2010). The adaptative immune response takes place in draining lymph nodes (dLNs) and spleen whe[...]Article
Charton K ; Blandin G ; Vihola A ; Marchand S ; Milic A ; Hackman P ; Ehler E ; Richard I ; Udd B | AFM-TELETHON | 2011Tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy 2J (LGMD2J) are M-band titinopathies, caused by mutations in the extreme C-terminus of titin. In patients of Finnish descent, TMD/LGMD2J is caused by FINmaj, an indel mutation ca[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chelh I ; Hadj Sassi A ; Pires-Alves A ; Cottin P | AFM-TELETHON | 2011Myostatin (MSTN), a growth factor member of the TGF-beta superfamily acts as a negative regulator of skeletal muscle growth and then contributes to muscle atrophy. The objective of this study* was to determine the interactions between this growt[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gentil C ; Mouisel E ; Amthor H ; Ferry A ; Voit T ; Garcia L ; Pietri Rouxel F | AFM-TELETHON | 2011In skeletal muscle, the _1 S subunit of the DHPR calcium channel functions both as the L-type Ca2+ channel and the voltage sensor for excitation-contraction coupling. We have combined optimized U7snRNA and gene transfer to achieve long-lasting d[...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)