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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[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Relizani K | AFM-TELETHON | 2011Objective: Abrogation of activin-receptor signaling such as myostatin blockade stimulates skeletal muscle growth and is regarded as a potential therapeutic strategy against muscle wasting in muscular dystrophies. We previously explored the myost[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rodriguez J ; Hayot M ; Vernus B ; Carnac G ; Jean E ; Allen D ; Goret L ; Obert P ; Candau R ; Bonnieu A | AFM-TELETHON | 2011Myostatin, a member of the TGF-_ superfamily of ligands, has been shown to be a negative regulator of skeletal muscle mass during embryogenesis and early postnatal muscle growth. Several studies indicate that myostatin is an important mediator o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hernandez-Hernandez O ; Guiraud-Dogan C ; Sicot G ; Luilier S ; Saenger S ; Obriot H ; Huguet A ; Nicole A ; Marsiniak E ; Revillod L ; Bizot JC ; Humez S ; Bassez G ; Metzger F ; Sergeant N ; Gourdon G ; Gomes Pereira M | AFM-TELETHON | 2011Although traditionally regarded as a muscle disease, myotonic dystrophy type 1 (DM1) has emerged as a brain disorder. The congenital form of the disease presents severe mental retardation, whereas hypersomnia, learning problems, personality chan[...]Article
Our aim is to understand how skeletal muscle form and grow during vertebrate embryonic development. The early skeletal muscle (the primary myotome, composed of mononucleated, post-mitotic muscle fibers, the myocytes) is formed from the generatio[...]Article
There are clinical, neurophysiological, neuropsychological and neuroimaging evidences of brain dysfunctions in DM1 (see Meola et al., 2007 for a review). Hypotheses of developmental abnormalities in the congenital form and neurodegenerative chan[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jacquette A ; Lemaitre H ; Angeard N ; Eymard B ; Whalen S ; Desguerre I ; Brunelle F ; Zilbovicius M ; Heron D ; Boddaert N | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited neuromuscular condition caused by an abnormal CTG triplet expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q35The [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarzi E ; Prouteau C ; Bielicki G ; Boddaert N ; Rigau V ; Delettre C ; Hamel C ; Reynier P ; Lenaers G | AFM-TELETHON | 2011PURPOSEDominant Optic Atrophy (DOA) is an inherited mitochondrial disease mainly caused by mutations in the OPA1 gene, encoding a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis. DOA is char[...]Article
Duque S ; Dominguez E ; Besse A ; Roda M ; Astord S ; Marais T ; Carcenac R ; Jacob A ; Gonzalez-Iribarren L ; Barkats M | AFM-TELETHON | 2011Intravenous (IV) delivery of self-complementary AAV9 (scAAV9) has been reported to be highly efficient for CNS gene transfer due to effective crossing of the bloodbrain- barrier (BBB). We and others recently showed that a single IV injection of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Piekuse L ; Lce B ; Bauze D ; Pronina N ; Daneberga Z ; Krumina A | AFM-TELETHON | 2011Case report - girl 4y of age had genetic consultation due to slight mental retardation, speech delay, autistic behavior, stereotypic movements and not developed fine motor skills. In blood biochemical investigation there were discovered slightly[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rafai MA ; Ibnkhribchia R ; Boulaajaj F ; Oumari S ; Manaf S ; El Moutawakil B ; Slassi I | AFM-TELETHON | 2011Introduction: Idiopathic orbital myositis is a rare entity, considered a sub-group of the orbit's Inflammatory pseudotumori. Cases report: Case 1: A 44 years old woman admitted for bilateral orbital pain, associated periorbital oedema and diplop[...]Livre
Ce livre s’adresse aux enfants de 4 à 11 ans. L'auteur raconte l’histoire d’un petit garçon atteint par une maladie neuromusculaire. Cet ouvrage est destiné à aider les adultes et les enfants à parler ensemble de la maladie neuromusculaire et à [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Loureiro De Sousa P ; Vignaud A ; Caldas de Almeida Araujo E ; Carlier PG | AFM-TELETHON | 2011Background. There is a strong need of non-invasive outcome measures for monitoring the natural progression of muscle disorders, particularly at the early stages of involvement. In this context, quantitative NMR imaging might provide objective ma[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fréret M ; Drouot L ; Ahmed Lecheheb S ; Dauly C ; Cosette P ; Authier FJ ; Boyer O | AFM-TELETHON | 2011Normal muscle fibers do not express detectable levels of class I major histocompatibility complex (MHC-I). In contrast, high-level expression of MHC-I is a hallmark of muscle autoimmune diseases such as polymyositis, inclusion-body myositis or d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Portilho D ; Mamchaoui K ; Lanzarini C ; Capri M ; Salvioli S ; Franceschi C ; van der Maarel S ; Butler Browne G ; Dumonceaux J | AFM-TELETHON | 2011Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy and it is characterized by progressive weakness and atrophy of the facial and shoulder girdle muscles. FSHD is caused by deletion of most copies of the 3.3-kb subte[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Galy A ; Sambasivan R ; Yao R ; Kissenpfennig A ; Van Wittenberghe L ; Paldi A ; Gayraud-Morel B ; Guenou H ; Malissen B ; Tajbakhsh S | AFM-TELETHON | 2011INTRODUCTION: Muscle-derived cells are able to differentiate towards osteogenic, chondrogenic or adipogenic lineage, in addition of their myogenic potential. This raises many biological and clinical questions. The cellular bases and the role of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lepper C ; Partridge T ; Chen-Ming F | AFM-TELETHON | 2011Skeletal muscle tissue is prone to damage from acute physical trauma such as sport injuries as well as from daily wear and tear: this is managed by its tremendous capacity to repair itself. Cell transplantation and lineage tracing studies have d[...]Article
Hentati F ; Rigolet A ; Behin A ; Romero NB ; France L ; Pascal L ; Maisonobe T ; Amouri R ; Haddad H ; M.Audit ; Montus M ; Masurier C ; Gjata B ; Georger C ; Cherai M ; Carlier P ; Hogrel JY ; Herson A ; Lemoine FM ; Klatzmann D ; Sweeney L ; Mulligan RC ; Eymard B ; Caizergues D ; Voit T ; Herson S | AFM-TELETHON | 2011BACKGROUND Gamma-sarcoglycanopathy or limb girdle muscular dystrophy type 2C (LGMD 2C) is an untreatable disease caused by autosomal recessively inherited mutations of the -sarcoglycan gene (SGC). METHODS Nine non-ambulatory LGMD2C patients (2 M[...]Article
AFM-TELETHON 2011Mesoangioblasts are recently characterized progenitor cells, associated with the vasculature and able to differentiate into different types of solid mesoderm, including skeletal muscle (Minasi et al. Development 129, 2773, 2002). When wild type [...]Article
Recessive mutations in anoctamin 5 (ANO5) have recently been identified in two distinct phenotypes, limb-girdle muscular dystrophy (LGMD) or distal non-dysferlin Miyoshi-like dystrophy (MMD3). The clinical features have consisted of adult onset [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jedrzejowska M ; Milewski M ; Zimowski J ; Kostera-Pruszczyk A ; Jurek M ; Hausmanowa-Petrusewicz I | AFM-TELETHON | 2011In this report we summarize the results of the work on the phenotype, epidemiology and molecular genetics of Polish cases of spinal muscular atrophy caused by SMN1 mutations.Biallelic loss of exon 7 of the SMN1 gene, the most frequent SMA mutati[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Viollet L ; Lewelt A ; Alvarez JC ; Reyna S ; Stoddard G ; Etheridge S ; LaSalle B ; Swoboda K | AFM-TELETHON | 2011The aim of this project is to determine whether 3,4 diaminopyridine (3,4DAP) is a viable treatment candidate for spinal muscular atrophy (SMA). Aminopyridines are voltage dependent potassium channel inhibitors that increase the duration and the [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Helmbacher F ; Caruso N ; Herberth B ; Bartoli M ; Dumonceaux J ; Lebossé M ; Maina F | AFM-TELETHON | 2011Generation of skeletal muscles with forms adapted to their function is essential for normal movement, and involves developmental mechanisms such as those regulating muscle diversification and migration. Understanding these developmental processe[...]Article
Generation of skeletal muscles with forms adapted to their function is essential for normal movement, and involves developmental mechanisms such as those regulating muscle diversification and migration. Understanding these developmental processe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Roig-Borrellas A ; Diaz-Ramos MA ; García-Melero A ; Lopez-Alemany R | AFM-TELETHON | 2011Plasminogen activation system (PA) plays an important role in the degradation of extracellular matrix components. Plasmin (Pli), the activated form of plasminogen (Plg), is implicated in several biological processes such as tissue remodelating a[...]Article
AFM-TELETHON 2011The lack of existing models of pathologic tissues has rendered many important questions in disease pathogenesis inaccessible. Human embryonic stem cells derived from affected embryos during a pre-implantation diagnostic (PGD), as well as the tec[...]Article
Valadares M ; Zucconi E ; Secco M ; Bueno Junior C ; Brandalise V ; Assoni A ; Gomes J ; Landini V ; Andrade T ; Lima B ; Vainzof M ; Zatz M | AFM-TELETHON | 2011The possibility to use stem-cells in the future as a therapy for progressive muscular dystrophies has been of great interest. However, many questions still need to be addressed. What is the best way of delivery: local or systemic? What are the b[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wahbi K ; Meune C ; Bécane HM ; Laforet P ; Behin A ; Stojkovic T ; Radvanyi-Hoffman H ; Eymard B ; Duboc D | AFM-TELETHON | 2011Background: Permanent pacing is recommended in patients with myotonic dystrophy type 1 (DM1) for the prevention of sudden cardiac death. However its impact on mortality is unknown.Methods: We retrospectively analyzed medical information of DM1 p[...]Article
AFM-TELETHON 2011During development, founder stem cells proliferate, and cell cycle exit is generally restricted to differentiating cells. In contrast, adult stem cells, can assume different cellular states, either quiescence or proliferating. After embryonic de[...]Article
Hammer C ; Puymirat J ; Bassez G ; Allain F ; Furling D ; Charlet Berguerand N | AFM-TELETHON | 2011Myotonic Dystrophy (DM) is the most frequent muscular dystrophy in adult. Myotonic Dystrophy type 1 (DM1) is caused by an expansion of CTG repeats located within the 3'-untranslated region of the DMPK gene, while DM2 is caused by an expansion of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hébert L ; Puymirat J ; Saulnier J ; Vial C ; Remec JF | AFM-TELETHON | 2011Introduction. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that demonstrates variable symptoms and rates of progression. Muscle weakness is considered one of the main problems with a clinical picture that is characterized by distal [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guiraud A ; Baas D ; Schaeffer L ; Goillot E | AFM-TELETHON | 2011Membrane remodelling is a fundamental process in skeletal muscle. It is involved in the generation and repair of myofibers, the formation and maintenance of neuromuscular junctions, and the development of T-tubules. The importance of membrane re[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vincent L ; Féasson L ; Messonnier L | AFM-TELETHON | 2011Sickle cell disease (SCD) is an inherited blood disorder that leads to the production of abnormal haemoglobin (Hb), called HbS. In previous experiments, we have shown that sickle cell trait (SCT) carriers (heterozygous form of the disease, chara[...]Publication AFM
Un bon état nutritionnel issu d’une alimentation équilibrée contribue à notre santé et à notre bien-être ; il favorise, chez l’enfant, une croissance harmonieuse. Chez les personnes atteintes d’une maladie neuromusculaire, il aide à mieux compen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vandenburgh H ; Shansky J ; Benesch-Lee F ; Skelly K ; Spinazzola J ; Green S ; Saponjian Y ; Butler Browne G ; Mouly V ; Tseng B | AFM-TELETHON | 2011Skeletal muscle weakness and fatigue disorders affect millions of individuals each year and few treatments are available. A high content physiological drug screening technology was developed using skeletal muscle myoblasts bioengineered into con[...]Article
Reversal of myotonic dystrophy type 1 MIS-splicing events using truncated-muscle blind-like factor 1
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Tran H ; Lermercier C ; Dhaenens CM ; Fernandez-Gomez F ; Eddarkaoui S ; Begard S ; Obriot H ; Van Brussels E ; Caillierez R ; Buee L ; Charlet Berguerand N ; Schraen-Maschke S ; Déglon N ; Colin M ; Furling D ; Caillet-Boudin ML ; Sergeant N | AFM-TELETHON | 2011Myotonic dystrophy of type I (DM1), the most common form of adult muscular dystrophy, is an autosomal dominant multisystemic inherited disease. The mutation consists of an unstable CTG expansion in the 3'UTR of the DMPK gene, which confers to th[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stockholm D ; Edom-Vovard F ; Coutant S ; Sanatine P ; Corre C ; Neildez-Nguyen TMA ; Paldi A | AFM-TELETHON | 2011The Neural cell adhesion molecule (NCAM;CD56) is considered as a marker of myogenic cells committed to differentiation. It is commonly used for the enumeration of satellite cells and for the enrichment of myogenic cell population from muscle for[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lefebvre S ; Renvoisé B ; Verrier ER ; Quérol G | AFM-TELETHON | 2011Infantile muscular atrophy (SMA) is a group of inherited neuromuscular disorders cause by mutations in the Survival Motor Neuron (SMN) gene. SMAs are characterized by the degeneration of the alpha-motorneurons and muscular atrophy. The ubiquitou[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Giagnacovo M ; Malatesta M ; Cardani R ; Pellicciari C ; Meola G | AFM-TELETHON | 2011Myotonic dystrophies (DMs) have highly variable clinical manifestations consisting in muscle weakness and atrophy, and a wide spectrum of extramuscular manifestations. In both DM1 and DM2 forms, expanded nucleotide sequences cause the accumulati[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vassilopoulos S ; Gentil C ; Laine J ; Buclez PO ; Brodsky F ; Bonne G ; Voit T ; Garcia L ; Pietri Rouxel F ; Bitoun M | AFM-TELETHON | 2011Clathrin CHC17, the ubiquitous clathrin heavy chain encoded on human chromosome 17, is the main component of clathrin coated vesicles (CCV), well characterized for its role in vesicle formation during endocytosis of membrane receptors from the p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joanne P ; Ochala J ; Hourde C ; Hadj-Said W ; Mounier R ; Zibroba D ; Sakamoto K ; Agbulut O ; Butler Browne G ; Ferry A | AFM-TELETHON | 2011Dystrophin contributes to force transmission and has a protein-scaffolding role for a variety of proteins (e.g. mechanoreceptor, nNOS, DHPR&) and is thus emerged to play an important role as components of signaling pathways acting in skeletal mu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Villemeur M ; Biondi O ; Temchenko A ; Marchand A ; Bourg N ; Richard I ; Authier FJ | AFM-TELETHON | 2011Dysferlin is a membrane-anchored protein implicated in plasma membrane repair process. In mammalians, dysferlin deficiency induces persistent sarcolemma disruptions leading to myofiber necrosis and chronic myopathy. Dysferlin myopathy is charact[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jessica KM ; Relaix F | AFM-TELETHON | 2011During embryogenesis, the skeletal muscle is constituted by myogenic progenitor cells. But around birth, foetal muscle progenitor cells adopt a satellite cell position, becoming embedded within the basal lamina in close contact to the muscle fib[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ratti F ; Ramond F ; Gilquin B ; Zhang Y ; Khochbin S ; Matthias P ; Méjat A ; Schaeffer L | AFM-TELETHON | 2011Skeletal muscle atrophy is a widespread and debilitating disease that mainly results from the massive degradation of muscle proteins, together with an inhibition of regenerating activity. The main occurring event is the down-regulation of the ak[...]Article
Cacchiareli D ; Cazzella V ; Cesana M ; Incitti T ; Pinnaro C ; Legnini I ; Morlando M ; Bozzoni I | AFM-TELETHON | 2011MicroRNAs are recognized as important regulators of gene expression in the differentiation commitment of several cell types and have been shown to occupy very high hierarchical positions in the cascade of regulatory events controlling cell speci[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Picard B ; Anne B ; Cassar-Malek I ; Chelh I ; Cottin P ; Gabillard JC ; Hadj Sassi A ; Leibovitch S ; Rodriguez J ; Seilliez I | AFM-TELETHON | 2011The control of muscle mass is determined by a dynamic balance of anabolic and catabolic processes. In the last decade, myostatin, a member of the TGFuperfamily, has emerged as a key factor in muscle growth regulation. The importance of myostatin[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Weiss J ; Bismuth J ; Eymard B ; Berrih-Aknin S ; Le Panse R | AFM-TELETHON | 2011Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies is commonly associated with thymic hyperplasia characterized by the presence of germinal centers containing B cells producing pathogenic antibodies.Our analysis of hyperplastic t[...]Article
Hubert L ; Romero NB ; Viollet L ; Laforet P ; Mathew S ; Bekri S ; Kirk E ; Peters H ; McGill JJ ; Glamuzina E ; von der Hagen M ; Alexander IE ; Kirmse B ; Vaz FM ; Munnich A ; Elpeleg O ; Delahodde A ; de Keyzer Y ; de Lonlay P | AFM-TELETHON | 2011Introduction: Main metabolic causes of myopathies are fatty acid oxidation (FAO) deficiencies. LPIN1 defects have been involved in severe and early rhabdomyolysis. Lipin1 plays a dual role, as a phosphatidate phosphatase 1 (PAP1) and as a transc[...]Article
Daou N ; Saclier M ; Baghdadi M ; Lécolle S ; della Gaspera B ; Charbonnier F ; Chanoine C ; Kjaer M ; Chazaud B | AFM-TELETHON | 2011Poster Calcineurin/NFAT (Nuclear Factor of Activated T-cells) signaling is involved in multiple aspects of skeletal muscle development and disease. A number of studies demonstrate that calcineurin plays a regulatory role in skeletal muscle adap[...]Article
The plasminogen activation (PA) system is a mechanism extensively used by the cell for the generation of proteolytic activity in the extracellular matrix, where it contributes to tissue remodeling in a wide range of physiopathological processes.[...]Article
Inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD) is a rare autosomal dominant disorder caused by mutations in Valosin Containing Protein (VCP), a molecular chaperone associated with protein degradation pro[...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)