Détail du congrès:
Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
Commentaire :
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Documents disponibles provenant de ce congrès (565)
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Deconinck N ; Dion E ; Ferreiro A ; Eymard B ; Richard P ; Allamand V ; Benyaou R ; Bonne G ; Stojkovic T | 2008Autosomal dominant Emery-Dreifuss dystrophy (EDMD) is caused by LMNA gene mutation while mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). The presence o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Soheili T ; Gicquel E ; Barrault L ; Bartoli M ; Richard I | 2008Sarcoglycanopathies are recessive muscular disorders caused by defects in a group of transmembrane proteins, known as sarcoglycans, and part of the dystrophin-associated complex. Mutations in the ?, ?, ? and ? sarcoglycan genes lead to a similar[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Leonardis L ; Zidar J | 2008The role of electromyographic short and long exercise tests in diagnosing inherited muscle channelopaties is well established. It has been reported that such tests can point to the affected genes or specific mutations. Our aim was to re-examine [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Amarof K ; Inamo J ; Sarrazin E ; Deschamps R ; Smadja D ; Bellance R | 2008Spinal muscular atrophy (SMA) is a recessive disorder characterized by degeneration of motor neurons in the anterior horn cells of the spinal cord and the brainstem, and with, clinically progressive weakness and hypotonia. The most common SMA is[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Wilton S | 2008Duchenne muscular dystrophy, the most common and serious form of childhood muscle wasting, is one of the greatest challenges for cell/gene therapies, due to the widespread and complex nature of dystrophin gene expression. Antisense oligomers can[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Darbellay B ; Arnaudeau S ; Konig S ; Jousset H ; Bader CR ; Demaurex N ; Bernheim L | 2008Specific intracellular calcium signals are required to induce myoblast differentiation. To generate these calcium signals, myoblasts can rely on two major sources: releases from intracellular calcium stores and influxes from extracellular medium[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dugue C ; Ammour M ; Antonelli D ; Bastiani C ; Blin J ; Cuenot P ; Dupuis C ; Noguiez-Hellin P | 2008Généthon’s aim is to find medicine for rare and heavy neuromuscular or immunological diseases. In the ‘90s, Généthon’s adopted the Gene Therapy to find solutions for these diseases. In this purpose, the E.T.G.C. from Généthon (Cell and Gene Ther[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nouet C ; Truan G ; Dujardin G | 2008In man, mutations in the gene BCS1L are responsible for pathologies with varying clinical presentations: GRACILE syndrome (iron overload in liver), Bjornstad syndrome (pili torti and sensorineural deafness) and several pathologies characterized [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tassin A ; Vanderplanck C ; Ansseau E ; Marcowycz A ; Mahemuti L ; Barro M ; Laoudj-Chenivesse D ; Belayew A ; Coppée F | 2008Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of a repeat array in the 4q35 subtelomeric region. In non-affected individuals the array comprises 11-100 tandem copies of a 3.3-kb element named D4Z4 in [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Legardinier S ; Hubert JF ; Le Bihan O ; Tascon C ; Rocher C ; Raguénès-Nicol C ; Bondon A ; Hardy S ; Le Rumeur E | 2008Dystrophin is a muscle scaffolding protein that establishes a structural link between the cytoskeleton and the extracellular matrix. Despite the large body of knowledge about the dystrophin gene and its interactions, the functional importance of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nakae Y ; Hirasaka K ; Goto J ; Nikawa T ; Shono M ; Yoshida M ; Stoward PJ | 2008Dystrophic muscles suffer from enhanced oxidative stress. We have investigated whether administration of an antioxidant, epigallocatechin-3-gallate (EGCG), a major polyphenol of green tea, reduces their oxidative stress and pathophysiology in md[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lazaro L ; Rochcongar P ; Menard D ; Ball S ; Marcorelles P | 2008We report on a nine-year girl who was referred for early fatigue and exercise-induced pain. Those symptoms as well as cramps had developed during early childhood. CK were elevated by one and a half. On clinical examination, a mild pelvic girdle [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bielli S ; Schäfer M ; Bellouze S ; Haase G | 2008Progressive motor neuronopathy (pmn) is a particularly aggressive form of motor neuron disease characterized by early loss of neuromuscular synapses and axonal dying back (Schmalbruch et al., 1991). We previously identified the genetic defect of[...]Article
A synthetic mechano growth factor E peptide enhances myogenic precursor cell transplantation success
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mills P ; Dominique JC ; Lafreniere JF ; Bouchentouf M ; Tremblay JP | 2008Duchenne muscular dystrophy (DMD) is the most frequent dystrophy by affecting 1 male on 3500 all around the world. Cellular therapy is one of the promising potential treatments for this disease although it faces some problems. Growth factors, su[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; van Putten M ; de Winter C ; Heemskerk H ; De Kimpe S ; van Deutekom J ; van Ommen GJ ; Aartsma Rus A | 2008Duchenne Muscular Dystrophy (DMD) is a chromosome X-inherited disorder, characterised by the absence of the protein dystrophin which plays a role in the protection of muscle fibers against damage. Patients display progressive degeneration of ske[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vitiello C ; Auricchio A ; Faraso S ; Sorrentino N ; Nusco E ; Nigro G ; Di Salvo G ; Calabro R ; Di Napoli D ; Castaldo S ; Nigro V | 2008Limb-girdle muscular dystrophies 2C-2D-2E-2F (LGMD2C-2F) are classified as "sarcoglycanopathies" and represent the most severe forms, often associated with cardiomyopathy They are caused by mutations in any of the four sarcoglycan (?, ?, ? and ?[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yin H ; Seow Y ; Moulton HM ; Iversen PL ; Boutilier JK ; Wood MJA | 2008Duchene Muscular Dystrophy (DMD) is a severe muscle disorder caused by mutations in the dystrophin gene. The efficacy of antisense oligonucleotide (AO)-mediated exon skipping for the restoration of dystrophin has been established in animal model[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dorchies O ; Reutenauer J ; Vuadens O ; Comyn S | 2008Data from the literature indicate that tamoxifen (Tam), a selective estrogen receptor modulator (SERM) used in the treatment of certain types of breast cancers, displays antioxidant, anti-apoptotic and anti-fibrotic properties and stabilises bio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Puymirat J ; Doucet G ; Huguet D ; Hiba B ; Gourdon G ; Furling D ; Janier M | 2008DM1 is caused by the expansion of a CTG repeat in the 3’untranslated region (3’-UTR) of a protein kinase (DMPK), which map to 19q13.3. There is accumulating evidence that the CTG repeat causes titration and sequestration of specific RNA-binding [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tran H ; Dhaenens C ; Ghanem D ; Charlet N ; Van Brussels E ; Sablonnière B ; Buee L ; Caillet-Boudin ML ; Schraen-Maschke S ; Sergeant N | 2008Myotonic Dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is a multisystemic inherited disorder that affects skeletal muscle, heart and brain. DM1 is caused by a CTG expansion mutation located on the 3’untranslated regio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Dilek N ; Martens W ; Moxley R | 2008Objective : To establish the test- retest reliability of DEXA measurements in patients with DMD. Background : DEXA measurements are frequently used as an outcome measure in therapeutic trials of DMD to document changes in lean body mass. There i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; McDonald CM ; Henricson EK ; Han JJ ; Nicorici AR ; Abresch RT ; Atkinson LA ; Reha AL ; Elfring GL ; Miller LL | 2008Background: The 6-minute walk test (6MWT) is a commonly used measure of cardiorespiratory endurance. Researchers have begun to use it as a strength related outcome measure in clinical trials in neuromuscular disease. We evaluated the 6MWT differ[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stum M ; Bangratz M ; Girard E ; Bernard V ; Davoine CS ; Tabti N ; Willer JC ; Echaniz-Laguna A ; Rene F ; Marcel C ; Fontaine B ; Molgo J ; Krejci E ; Nicole S | 2008Schwartz-Jampel syndrome (SJS) is a recessive disorder characterized by neuromyotonia with complex repetitive discharges at electromyography (EMG). SJS results from hypomorphic mutations of perlecan, a ubiquitous proteoglycan secreted within bas[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chisari C ; Bongioanni P ; Rossi B | 2008Many studies have been carried out to clarify the mechanism underlying the abnormalities of sarcolemma in Myotonic Dystrophy type1 (MD) but univocal results have not been reported. The first clinical evidence of specific channels involvement was[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bonnet A ; Dai F ; Brand-Saberi B ; Duprez D | 2008Skeletal muscle formation is crucially dependent on four basic-helix-loop-helix (bHLH) transcription factors, Myf5, MyoD, Mrf4 and Myogenin, which are named the myogenic regulatory factors (MRFs). Beside this recognized master role of the MRFs i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Morel JL ; Fritz N ; Dabertrand F ; Macrez N ; Henaff M ; Mironneau J ; Mironneau C | 2008The mdx mouse, a model of the human Duchenne muscular dystrophy displays incompletely understood impaired contractile function of skeletal, cardiac and smooth muscles. We explored the possibility that ryanodine receptor (RYR) expression could be[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; De Castro D ; Laloui K ; Doppler V ; Payan C ; Hogrel JY ; Ollivier G ; Laforet P ; The French Pompe Registry Study Group | 2008Introduction: Recombinant human alpha al-glucosidase (rhGAA; Myozyme® Genzyme), an enzyme replacement therapy (ERT) for Pompe disease (PD; acid maltase deficiency, glycogenosis type II), was first used in France for late-onset patients in May 20[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Junghans R | 2008Dystrophia myotonia type 1 (DM1; myotonic dystrophy) is an autosomal dominant disorder due to a large CTG expansion in the 3' untranslated region (UTR) of the DM protein kinase (DMPK) gene. Transcription of this gene yields a long CUGn-containin[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Amsili S ; Zer H ; Hinderlich S ; Becker-Cohen M ; Macarthur DG ; North KN ; Mitrani-Rosenbaum S | 2008Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid. While the mechanism leading from GNE mutations to the HIBM phenotype is not yet und[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Apostol P ; Cimponeriu D ; Stavarachi M ; Butoianu N ; Minciu I ; Burloiu C ; Toma M ; Magureanu S ; Gavrila L | 2008Background Skeletal muscle dysfunction is the main clinical feature in patients with different types of spinal muscular atrophy (SMA). We consider that improper muscle irrigation could accelerate the progression of muscular dysfunction in these [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bérard C ; Payan C ; MFM study group | 2008Following a questionnaire sent in 1998 to international teams concerning the need of a new functional scale suited to neuromuscular diseases, the Motor Function Measure (MFM) was constructed and validated. Three successive versions and more than[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Eagle M ; Scott E | 2008The North Star Clinical Network for Paediatric Neuromuscular Disease Management (NSCN) is a collaboration of neuromuscular centres in the UK whose aim is to optimize the management of children with neuromuscular disorders. One of the initial key[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hamroun D ; Beroud C ; Claustres M ; Kaplan JC | 2008The first gene table of neuromuscular disorders (Neuromuscular Disorders, 1991, Vol 1, N°1, 75-76) was a list of seven identified genes and sixteen mapped loci awaiting identification of the causative gene. In the January 2008 printed version of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kishnani P ; Byrne B ; Case L ; Merlini L ; van der Ploeg A | 2008Introduction: Pompe disease (acid maltase deficiency) is a rare, progressive, and often fatal metabolic myopathy caused by deficiency of the enzyme acid alpha-glucosidase. Clinical manifestations vary significantly with respect to age at onset, [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Oertel J ; Watschinger K ; Fontaine B ; Nicole S | 2008Hereditary skeletal muscle channelopathies are characterized by abnormal muscle excitability. They result from mutations in genes coding for skeletal muscle voltage-gated ion channels involved in the propagation of action potential and excitatio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stanciu R ; Amoura Z ; Guiguet M ; Rigolet A ; Musset L ; Capron F ; Touitou D ; Cacoub P ; Piette JC ; Herson S ; Benveniste O | 2008Anti-synthetase syndrome is characterized by myositis, interstitial lung disease (ILD), arthritis, Raynaud’s phenomenon, skin change of the hands (mechanic’s hand), and the presence of autoantibodies of which anti-histidyl-transfer RNA synthetas[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Herson A ; Gallais B ; Michon CC ; Doppler V ; Payan C ; Herson S ; Eymard B ; Gargiulo M ; Laforet P | 2008Objective: To prospectively evaluate the psychological impact of the participation in a clinical trial on patients with late-onset Pompe Disease. Method: From the moment of the inclusion and until the end of the trail at 18 months: we assessed e[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ravel Chapuis A ; Bélanger G ; Coté J ; Thornton C ; Desgroseillers L ; Jasmin B | 2008Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that results in several characteristic symptoms including myotonia, muscle weakness and wasting, pain, cardiac defects, cataracts, cognitive impairments, and endocrine abnormaliti[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; François S ; Deponti D ; Pessina P ; Azzoni E ; Maggioni M ; Clementi E ; Meneveri R ; Brunelli S | 2008Necdin is a transcriptional co-factor of the MAGE protein family and deletion of this gene in human is associated with Prader-Willi syndrome (PWS). Mice lacking Necdin display a variety of phenotypes mimicking some aspects of the PWS. Previous s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Schröder R | 2008Plectin, a high molecular weight cytoskeletal linker protein (530 kDa), is widely distributed in mammalian tissues, with highest expression in squamous stratified epithelia, muscle and brain. Mutations of the human plectin (Plec1) gene on chromo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Daoud F ; Candelario-Martínez A ; Billard J ; Avital A ; Khelfaoui M ; Rozenvald Y ; Guégan M ; Mornet D ; Nudel U ; Chelly J ; Martinez-Rojas D ; Laroche S ; Yaffe D ; Vaillend C | 2008Duchenne muscular dystrophy (DMD) is caused by deficient expression of the cytoskeletal protein, dystrophin. One third of DMD patients also have mental retardation (MR), likely due to mutations preventing expression of dystrophin and other brain[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Siegel A ; Zimmerman A ; Henley S ; Rhodes J ; Miles M ; Shin G ; Beck B ; Hoff H ; Kurz J ; Balch F ; Carlson CG | 2008The TS is an expiratory muscle that is passively stretched with each inspiration and concentrically activated with each expiration. The degree of passive stretch of TS muscle fibers depends upon the location of the fiber within the muscle, with [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rimessi P ; Sabatelli P ; Braghetta P ; Fabris M ; Bassi E ; Spitali P ; Vattemi G ; Perrone D ; Medici S ; Neri M ; Bovolenta M ; Martoni E ; Maraldi N ; Bonaldo P ; Gualandi F ; Merlini L ; Caputo A ; Tondelli L ; Laus M ; Ferlini A | 2008For a subset of Duchenne muscular dystrophy (DMD) mutations, antisense oligonucleotide (AON)-mediated exon skipping has been reported to be efficacious to restore protein expression. The primary goal of our study was to evaluate the usage of nov[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stuelsatz P ; Veschambre P ; Cottin P | 2008MyoD is part of the myogenic regulatory factors (MRFs) family, which are the essential factors controlling the myogenesis during embryonic development or muscular regeneration in the adulthood. CAPN3 is a calcium-dependent cysteine protease main[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Etard C ; Roostalu U ; Behra M ; Strähle U | 2008Contraction of muscles is mediated by highly organized arrays of myosin motor proteins. We report here the characterisation of a mutation of an UCS gene named steif/unc45b that is required for the formation of ordered myofibrils in both the skel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nelson I ; Filaut S ; Jardel C ; Lombès A | 2008The incidence of patients with neuromuscular diseases and a suspected mitochondrial diseases is very high. Most patients present with characteristics that are suggestive of a mitochondrial DNA (mtDNA) alteration including mosaic pattern of muscl[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chaouch S ; Goyenvalle A ; Mamchaoui K ; Butler-Browne GS ; Di Santo J ; Torrente Y ; Mouly V ; Garcia L ; Furling D | 2008We are now at a point in time where gene therapy is becoming a reality. However, in order to validate these strategies, it is essential to have in vitro human cell culture models. For the study of neuro-muscular diseases, the use of patient myob[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sciorati C ; Azzoni E ; Ongini E ; Monopoli A ; Brunelli S ; Clementi E | 2008Duchenne muscular dystrophy is a relatively common disease that affects skeletal muscle leading to progressive paralysis and death. There is currently no resolutive therapy. We have developed a novel strategy based on the combination of nitric o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mimault B ; Cheraud Y ; Fontaine-Perus J | 2008The tissular and molecular interactions that govern the onset of myogenesis during embryogenesis are not yet entirely elucidated. The aim of our research is to use the advantages of the chick embryo to analyze the emergence of myoblasts in early[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blazquez L ; Azpitarte M ; Saenz A ; Goicoechea M ; Otaegui D ; Vilchez J ; Lopez de Munain A | 2008Introduction: Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder caused by mutations in the CAPN3 gene. This gene is preferentially expressed in muscle tissue, but we have recently described that four different CA[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Udd B | 2008The first human titinopathies were identified in 2002. Five years later there is a wide variety of clinical phenotypes and mutational defects involved with titin mutations, such as selective cardiomyopathy, selective distal myopathy, LGMD phenot[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Charton K ; Daniele N ; Suel-Petat L ; Udd B ; Richard I | 2008Titin is a giant protein expressed in both skeletal muscles and heart. Titin spans from the Z-disc to the M-line of striated muscle sarcomeres. Several pathogenic mutations were identified in its last two exons causing the phenotype of late onse[...]Article
Mesoangioblasts are recently characterized progenitor cells associated with the vasculature and able to differentiate in different types of solid mesoderm including skeletal muscle. Human adult mesoangioblasts were recently isolated and expanded[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duguez S ; Raja B ; Partridge T | 2008Cell proliferation is an important parameter in the behavior of many cell types. Fluorescence activated cell sorting (FACS) in combination with cell tracker dyes allows tracking of cell divisions over time but is restricted to large numbers of d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pêcheux C ; Krahn M ; Chapon F ; Beroud C ; Drouin-Garraud V ; Laforet P ; Romero NB ; Pénisson-Besnier I ; Bernard R ; Urtizberea JA ; Leturcq F | 2008Mutations in the gene encoding calpain-3 (CAPN3) cause autosomal recessive Limb-Girdle Muscular Dystrophy type 2A (LGMD2A) and idiopathic Eosinophilic Myositis. Accurate diagnosis and genetic counselling is based on the identification of disease[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duque S ; Joussemet B ; Riviere C ; Marais T ; Dubreil L ; Douar AM ; Moullier P ; Colle MA ; Barkats M | 2008Gene therapy for Central Nervous System (CNS) disorders is impeded by the Blood Brain Barrier (BBB), a physical barrier preventing the entry of viral vectors. For motor neuron diseases (e.g. Spinal Muscular Atrophy (SMA) and Amyotrophic Lateral [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hoen P ; De Meijer E ; Aartsma Rus A ; van Ommen G ; van Deutekom J ; den Dunnen J | 2008We have generated mice with an intact and functional copy of the 2.3 Mb human dystrophin gene (hDMD), the largest functional stretch of human DNA thus far integrated into a mouse chromosome. For this, yeast spheroplasts containing an artificial [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Guillery O ; Miserey-Lenkei S ; Lombès A ; Goud B ; Rojo M | 2008Mitochondria are dynamic organelles that represent a single cellular compartment interconnected by continuous fusion and fission. The balance of these antagonizing reactions determines overall mitochondrial morphology, which ranges from elongate[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bushby K ; Lynn S ; Straub V | 2008Promising therapies for neuromuscular diseases have been identified from many research areas and clinical trials for some of these therapies have begun. These long awaited developments have illustrated the lack of trial readiness amongst the neu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Humbertclaude V ; Tuffery-Giraud S ; Hamroun D ; Desmet FO ; Lalande M ; Collod-Béroud G ; Lochmuller H ; Claustres M ; Beroud C | 2008The TREAT-NMD (Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases) ‘network of excellence’ is funded by the European Union and aimed at improving treatment and finding cures for patients with neuromuscula[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lachey J ; Pullen A ; Wong V ; Pearsall RS ; Seehra J | 2008Dystrophin-deficient, or mdx, mice contain a mutation in the dystrophin gene and are therefore the genetic homolog of Duchenne muscular dystrophy. While the consequences of dystrophin deficiency in mice are less severe than what is seen in DMD p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Oddoux S ; Fauré J ; Brocard J ; Fourest A ; Lunardi J ; Marty I | 2008In skeletal muscle, release of calcium leading to contraction (a mechanism also called “excitation contraction coupling”) is performed by a macromolecular complex, composed of two calcium channels (ryanodine receptor, RyR, and dihydropyridine re[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Homs J ; Ariza A ; Rodriguez E ; Chillón M ; Bosch A | 2008Central nervous system transduction has been extensively studied with a wide variety of viral vectors. However, peripheral nervous system transduction has not brought that much attention to researchers so far, despite the importance of acquired [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Louis M ; Zanou N ; Gailly P | 2008Myoblasts migration is a key step in myogenesis and in regeneration. It allows myoblasts alignment and fusion into myotubes. This process has been shown to involve m- or µ-calpains, two calcium-dependent cysteine proteases. Indeed, growth factor[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martin E ; Gannon C ; Caubit X ; Coré N ; Fillipi P ; Vola C ; Garratt AN ; Woolf A ; Fasano L | 2008Teashirt (Tshz) genes encode transcription factors conserved between flies and mammals. We show that mouse ureteric smooth muscle cell (SMC) precursors express Tshz3, and that Tshz3 null mutant mice have congenital hydronephrosis without anatomi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Legardinier S ; Legrand B ; Raguénès-Nicol C ; Bondon A ; Le Rumeur E ; Hubert JF | 2008While dystrophin's native function is still largely unknown, it is well established that lack of functional dystrophin in muscle cell causes Duchenne muscular dystrophy (DMD). The native dystrophin is organised in four domains: a N-terminal acti[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bassez G ; Chapoy E ; Bastujy-Garin S ; Radvanyi-Hoffman H ; Authier FJ ; Pellissier JF ; Eymard B ; Gherardi R | 2008In myotonic dystrophy type 2 (DM2), CCUG expansions form pathogenic ribonuclear accumulations that are detectable by in situ hybridization (ISH). Clinical DM2 diagnosis is often overlooked due to a poorly specific presentation and a muscle biops[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tuffery-Giraud S ; Beroud C ; Leturcq F ; Ben Yaou R ; Hamroun D ; Desmet FO ; Michel-Calemard L ; Khau Van Kien P ; Humbertclaude V ; Kaplan JC ; Chelly J ; Claustres M | 2008UMD-DMD France is a national locus-specific database (LSDB) dedicated to dystrophinopathies. It has been developed through a multi-center academic effort to provide an up-to-date resource of curated information covering all identified and fully [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fischer U ; Chari A ; Neuenkirchen N ; Giegerich M ; Klingenhaeger M ; Winkler C | 2008Spinal muscular atrophy is a neuromuscular disease caused by reduced levels of the survival motor neuron (SMN) protein. SMN is part of a macromolecular ("SMN")-complex that, together with the PRMT5-complex mediates the assembly of Sm proteins on[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Calbo S ; Delagrèverie H ; Arnoult C ; Boyer O | 2008Skeletal muscles do not physiologically express detectable levels of MHC class I while widespread appearance of MHC class I on the surface of muscle fibers is a hallmark of human autoimmune myopathies (myositis). Nagaraju et al. have developed a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Goyenvalle A ; Babbs A ; Garcia L ; Davies KE | 2008Most cases of Duchenne muscular dystrophy (DMD) are caused by mutations that disrupt the dystrophin mRNA reading frame. In many cases, skipping of a single exon could supposedly restore the reading frame, giving rise to a shorter but still funct[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Reutenauer J ; Dorchies O ; Boittin FX ; Patthey-Vuadens O | 2008Urocortins are structurally related peptides of the corticotrophin-releasing factor (CRF), which has been widely implicated in responses to physical, emotional and environmental stress. Recently, it has been reported that a CRF-receptor-2 (CRFR2[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Marteyn A ; Lecuyer C ; Sermon K ; Pietu G ; Peschanski M ; Martinat C | 2008Human embryonic stem cell lines (hES) provide an invaluable resource for the understanding of molecular and cellular mechanisms implicated in the development of monogenic diseases. Indeed, hES cell lines carrying the causal mutation and derived [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Durand S ; Tazi J ; Lejeune F | 2008Nonsense-Mediated mRNA Decay (NMD) is an mRNA quality control process that degrades mRNA containing premature termination codons (PTC) in order to avoid the production of truncated proteins with potential deleterious effects for cells. One third[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hogrel JY | 2008Myotonic disorders are characterized by slowed muscle relaxation capacity in relation to the presence of myotonic potentials in the electromyogram. Several syndromes have been depicted presenting inability to relax the muscles after a brief inte[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hackman P ; Hollo S ; Luque H ; Tokola M ; Kere J ; Edstrom L ; Ahlberg G ; Udd B | 2008Welander distal myopathy (WDM) is a late onset autosomal dominant disease characterized by slow progression of distal muscle weakness. Usually hands are first affected with weakness of the finger extensor muscles. A few much more severely affect[...]Article
WNT non-cannonical signaling regulates stem cell self-renewal within the muscle satellite cell niche
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Le Grand F ; Jones A ; Scimè A ; Rudnicki M | 2008Skeletal muscle growth and regeneration are attributed to satellite cells which are myogenic cells lying between the myofiber sarcolemma and basal lamina. Recent findings in our lab indicated that the satellite cell pool can be divided in 2 line[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ben Yaou R ; Deburgrave N ; Gueneau L ; Beugnet C ; Bonne G ; Chelly J ; Leturcq F ; Réseau Français Emery-Dreifuss Et Autres Nucléopathies R | 2008Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare autosomal or X-linked recessive condition, associating muscular dystrophy, joint contractures and cardiac disease. X-linked forms are caused by EMD gene mutations (Emerin). Since the identificat[...]