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 :
AFM
|
Documents disponibles provenant de ce congrès (565)
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Degoutin J ; Brunet-De Carvalho N ; Gouzi JY ; Cifuentes-Diaz C ; Vigny M | 2008Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase that is transiently expressed in specific regions of the central and peripheral nervous systems, suggesting a role in its normal development and function. The nature of the cognate l[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sellathurai J ; Joergensen LH ; Petersson SJ ; Jensen CH ; Dhawan J ; Schroeder HD | 2008Muscular dystrophies are a heterogeneous group of muscle degenerating diseases for which no effective treatment exist. A potential treatment strategy could be developed by studying DLK1 and myostatin regulation. DKL1 and myostatin are known to g[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chopard A ; Bronicki L ; Hillock S ; Lunde J ; Jasmin BJ | 2008Several transcriptional mechanisms are known to be involved in the atrophic-hypertrophic response of skeletal muscle. However, converging lines of evidence have led us to hypothesize that post-transcriptional events, operating at the level of mR[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Castets P ; Maugenre S ; Gartioux C ; Rederstorff M ; Lescure A ; Krol A ; Tajbakhsh S ; Allamand V ; Guicheney P | 2008SEPN1-related myopathy is a rare disorder characterized by axial muscle weakness, scoliosis and respiratory failure, and caused by mutations in the SEPN1 gene, encoding selenoprotein N (SelN). This entity gathers four autosomal recessive muscula[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rosas-Sánchez F ; Martínez-Torres A | 2008Muscle satellite cells (SMCs) are quiescent precursors of myoblast with specific localization and cytology properties (Mauro, 1961; Muir et al., 1965; Gibson et al., 1982; Schmalbruch y Hellhammer., 1977). SMCs are able to proliferate, different[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rochat A ; Alonso S ; Morais J ; Relaix F | 2008Growth and repair of adult skeletal muscle is achieved by a population of progenitor/stem cells, the satellite cells. Satellite cells are derived from a fetal population of Pax3-expressing progenitor cells providing successive waves of myogenic [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dodille-Plaisant M ; Allegra M ; Loubat A ; Sacconi S ; Ponzio G ; Delplace S ; Corbel L ; Desnuelle C ; Rossi B | 2008Facioscapulohumeral muscular dystrophy (FSHD) is an inherited neuromuscular disorder affecting a characteristic pattern of muscles. The physiopathological mechanism has not been elucidated yet, but relies on the deletion of the D4Z4 repeat in th[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sakthivel M ; Lakshmi R ; Thilothammal N ; Viswanathan V | 2008A 10-year-old female child presented with 2-year history of progressive difficulty in walking and getting up from supine posture. Clinical evaluation, serum creatine phosphokinase levels (2222 IU/L) and muscle biopsy was consistent with muscular[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Baudot C ; Poitelon Y ; Hamadouche T ; Jacquier A ; Boccaccio I ; Chouery E ; Chaouch M ; Kassouri N ; Jabbour R ; Grid D ; Mégarbané A ; Haase G ; Delague V | 2008Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary neuropathies characterized by chronic distalweakness and sensory loss. CMT4H is an autosomal recessive demyelinating subtype recently mapped b[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Baranov VS ; Vakharlovsky VG ; Komantzev V ; Malysheva OV ; Kiselev AV | 2008The results of prolonged valproic acid (VA) treatment of 13 patients affected with proximal spinal muscular atrophy (SMA) are summarized. Positive clinical response was registered in 10 out of 13 SMA patients. Some minor clinical progress was re[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Quijano Roy S ; Vuillaumier-Barrot S ; Maugenre S ; van den Bergh P ; Peudenier S ; Bouchet C ; Chelbi M ; Avila D ; Steinbrecher A ; Orlikowski D ; Marcorelles P ; Romero NB ; Leturcq F ; Estournet B ; Guicheney P ; Seta N | 2008Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan, usually due to a founder mutation of the fukutin gene. FCMD is characterized by severe congenital muscular dystrophy and mental retardation (MR)[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bassez G ; Guiraud-Dogan C ; Hamroun D ; Beroud C | 2008Myotonic dystrophy is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. This high variability of the multisystemic involvement creates particular challenges for both management and the design of optimal the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Picozzi P ; Cabianca D ; Gabellini D | 2008Facioscapulohumeral muscular dystrophy (FSHD) is the third most important myopathy. Currently, no therapeutic treatment is available for FSHD. Unlike the majority of genetic diseases, FSHD is not caused by mutation in a protein-coding gene. Inst[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Germinario E ; Esposito A ; Peron S ; Tupler R ; Danieli-Betto D | 2008Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder characterized by progressive weakness and atrophy of the facial, shoulder, abdominal and pelvic girdle muscles. Evidence indicates the over-expression of genes [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Truffault F ; Nazzal D ; Kerlero-De-Rosbo N ; Berrih-Aknin S | 2008Myasthenia Gravis (MG) is an autoimmune disease characterized by antibody-mediated dysfunction of the neuromuscular junction. Regulatory CD4+CD25+Foxp3+ T cells (Treg) are responsible for maintenance of the peripheral self-tolerance. Our previou[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cambier L ; Rassam P ; Auffray C ; Pomiès P | 2008By quantitative hybridization of a high-density cDNA array, fourteen novel gene transcripts, called GENX, preferentially expressed in human muscles have been identified (Piétu et al., 1996). My research project is to identify and to characterize[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pomiès P ; Beckerle M | 2008The two ALP (?-actinin associated LIM protein) isoforms, smALP and skALP, which exhibit identical N-terminal PDZ domains and C-terminal LIM motifs with a variable central core, are produced as a result of alternative splicing and are known to in[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Weiss N ; Couchoux H ; Bichraoui H ; Legrand C ; Allard B ; Ronjat M ; Berthier C ; Jacquemond V | 2008Caveolins constitute a membrane-associated family of proteins believed to regulate various signaling proteins, including ion channels. Mutations in the CAV3 gene which encodes the muscle specific isoform caveolin-3 (Cav-3) lead to muscle disease[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sene A ; Fort PE ; Forster V ; Mornet D ; Nudel U ; Yaffe D ; Sahel JA ; Rendon A | 2008We have showed that Dp71 and Utrophin are the only dystrophin superfamily members expressed in Müller Glial cells (MGC). Dp71 deletion leads to a compensating utrophin up-regulation Here we characterized the Dp71 or Utrophin /Dystrophin Associat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gautheron V | 2008An assessment of functional capacity is essential before starting any rehabilitation treatment and is a prerequisite if compensatory strategies and technical aids are to be suggested to patients. The Functional Independence Measure (FIM™) was pu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nuutinen E ; Marttila M ; Ollila S ; Donner K ; Pelin K ; Wallgren-Pettersson C | 2008Tropomyosins together with the troponin complex regulate the binding of actin to myosin during muscle contraction. In humans tropomyosins are encoded by at least four different genes, TPM1-4. Mutations in the beta-tropomyosin (TPM2) gene have be[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Calbo S ; Delagrèverie H ; Arnoult C ; Authier FJ ; Tron F ; Boyer O | 2008The mechanisms of immunological tolerance to skeletal muscle autoantigens remains mostly unknown. To investigate this issue, we generated transgenic mice expressing the neo-autoantigen ovalbumin (OVA) exclusively in skeletal muscle (SM-OVA mice)[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fleischmann BK | 2008We have assessed in recent years the utility of different types of progenitors/stem cells for cardiac repair after myocardial infarction. One of the key questions was whether infarcted heart tissue can determine the differentiation fate of engra[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boulay C ; Pomero V ; Jacquemier M ; Custaud M ; Pagni S ; Viehweger E ; Glard Y ; Jacopin S ; Launay F ; Jouve JL ; Bollini G ; Chabrol B | 2008The gait analysis provided different kinematic patterns of walking in the Charcot Marie Tooth disease (CMT). The dynamic electromyography (EMG) described the muscles pattern for each type of gait in CMT. The classical gait pattern in CMT is char[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hogrel JY ; Canal A ; Barrey E ; Ollivier G | 2008Quality of gait is a fundamental outcome measurement for the follow-up of neuromuscular patients either during the natural history of their disorder or during a therapeutic trial. Precise gait analysis can be performed using kinematic systems in[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duddy W ; Cohen T ; Partridge T | 2008Loss of muscle mass through atrophy is associated with aging, cachexia, inactivity through illness or injury, and many neuromuscular disorders. Regulation of muscle mass is important for strength and fitness of healthy individuals. Change in mus[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pallafacchina G ; Montarras D ; Cumano A ; Buckingham M | 2008Satellite cells are the main progenitor cells for skeletal muscle growth and regeneration under physiological conditions. The difficulty of purifying these quiescent cells in sufficient number has precluded their biochemical characterization. Pa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pautrel I ; Crapie C ; Jacques D ; Sequestra N ; Noguiez-Hellin P | 2008Généthon’s ETGC is working in 5 production rooms - dispatched on two sites - among which 3 are dedicated to viral vectors production for development of therapeutic products for phase I and II clinical trials. These productions are performed in c[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Burghes A ; Workman E ; McGovern V ; Saieva L ; Pellizzoni L ; Beattie C | 2008Spinal muscular atrophy is caused by loss or mutation of the SMN1 gene and retention of SMN2, leading to low levels of functional SMN. A major function of SMN is assembly of the heptameric Sm ring onto snRNA with SMA tissues having reduced activ[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Junion G ; Bataillé L ; Jagla T ; Da Ponte JP ; Tapin R ; Jagla K | 2008Correct diversification of cell types during development is controlled by combinatorial code of transcription factor activities, the identity gene code. The role of identity genes in specifying cell fates has been demonstrated in a broad range o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gueneau L ; Ben Yaou R ; Demay L ; Llense S ; Chikhaoui K ; Trabelsi M ; Beugnet C ; Deburgrave N ; Leturcq F ; Chelly J ; Richard P ; Bonne G | 2008Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare autosomal or X-linked recessive condition, associating muscular dystrophy, joint contractures and cardiac disease. Mutations in 2 genes, EMD (emerin) and LMNA (Lamins A/C) encoding nuclear envel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arvanitis DA ; Sanoudou D ; Kolokathis F ; Vafiadaki E ; Theodorakis G ; Kontrogianni-Konstantopoulos A ; Paraskevaidis IA ; Adamopoulos S ; Dorn II GU ; Kremastinos DTH ; Kranias EG | 2008Abnormal Ca-cycling in the cardiomyocyte is a hallmark of dilated cardiomyopathy (DCM). Furthermore, DCM patients are at substantial risk for sudden cardiac death due to malignant ventricular arrhythmias. The histidine-rich calcium binding prote[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Apostol P ; Cimponeriu D ; Toma M ; Butoianu N ; Burloiu C ; Craiu D ; Magureanu S ; Gavrila L | 2008Vitamin D is a steroid hormone known for its key roles in calcium homeostasis, proliferation and apoptosis. Previous studies have also reported the association of vitamin D deficiency with muscle weakness and neuromuscular dysfunction. The vitam[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Melki J | 2008Motor neuron diseases (MND) are rare diseases characterized by degeneration of lower (spinal muscular atrophy, SMA), upper (spastic paraplegia, HSP and primary lateral sclerosis) or both upper and lower motor neurons (amyotrophic lateral scleros[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Basak AN | 2008ALS is the most common adult-onset motor neuron disease. Described in 1869, by the French Neurobiologist J. M. Charcot, the primary disease hallmark is the selective and progressive degeneration of the neurons in the corticospinal tracts. ALS pr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laing NG | 2008The congenital myopathies are a diverse group of entities, with considerable genetic heterogeneity. The genetic heterogeneity includes mutations in multiple different genes causing similar pathological phenotypes, and multiple different patholog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makri S ; Clarke NF ; Richard P ; Maugenre S ; Demay L ; Terki N ; Bonne G ; Guicheney P | 2008Background: Mutation p.Arg527Pro in the lamin A/C, encoded by LMNA gene, was identified several times in dominant Emery-Dreifuss muscular dystrophy and cases with muscular dystrophy, lipodystrophy, and cardiac rhythm disturbances. We found this [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Musarella M ; Bellouze S ; Caillol G ; Autillo-Touati A | 2008Mouse mutants provide good models for the study of degenerative neuromuscular diseases in human. Although recent data indicate a pivotal role for Terminal Schwann Cells (TSC) in maintaining synaptic structure and function, their role in patholog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Huynh M ; Garcia-Filipe S ; Morin C ; Barbier-Chassefière V ; Besse S ; Narassimprakash H ; Jeniskens G ; Martelly I ; Papy-Garcia D | 2008Despite the increasing evidences demonstrating the diverse roles of glycosaminoglycans (GAGs) in many fundamental biological processes, most studies directed to understand the extracellular matrix implication in cardiac dysfunction focuses mainl[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fauchille S ; Adin P ; Barnay-Toutain F ; Burie C ; Dufour D ; Halbout C ; Le Provost G ; Maleau G ; Sander B ; Noguiez-Hellin P | 2008Genethon has been provided with GMP manufacturing facilities of about 600 m2 for the production of viral vectors for human gene therapy trials. All steps are performed on the site: plasmid production, cell banking, cell culture, purification and[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Moore-Morris T ; Varrault A ; Le Digarcher A ; Journot L ; Nargeot J ; Couette B | 2008Maintaining or even enhancing skeletal muscle mass is critical not only in inherited muscular disorders but also in the context of aging and in various disease states associated with muscle loss. The aim of any treatment for muscle wasting is to[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Larue S ; Maisonobe T ; Papo T ; Chapelon-Abric C ; Lidove O ; Servan J ; Veber H ; Dashi F ; Dubourg O | 2008We report four patients with chronic myopathy suggestive of inclusion body myositis (IBM), but in whom muscle biopsy showed a granulomatous myositis (GM). Our 4 patients, three women and one men, aged 71 to 83, presented with a slowly progressiv[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dorchies O ; Comyn S ; Ruegg U | 2008Muscular dystrophies are characterized by fibrosis, a process leading to abnormal accumulation of materials of fibroblastic origin in the skeletal muscles as necrosis-regeneration cycles take place. Fibrosis results from alterations in a multifa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maier A ; Cohen R ; Blom J ; Westendorp R | 2008Sarcopenia is defined as a decrease in skeletal muscle mass that is particularly caused by satellite cells being unable to proliferate. The number of satellite cells, as well as the proliferative capacity of isolated satellite cells in vitro dec[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Renou L ; Stora S ; Ben Yaou R ; Sinkovec M ; Demay L ; Richard P ; Peterlin B ; Bonne G | 2008Heart-hand syndrome (HHS) is a heterogeneous group of genetic disorders characterized by congenital cardiac and limb deformities. Five subtypes are currently reported, among them the Slovenian type (HHS-S) associating bracydactyly and cardiac co[...]Article
Heat shock treatment increases engraftment of human transplanted myoblasts into immunodeficient mice
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bencze M ; Riederer I ; Negroni E ; Bigot A ; Butler-Browne GA ; Mouly V | 2008One of the phenomena known to limit the success of myoblast transfer therapy (MTT) is the massive and early cell death observed during the first few hours after cell injection. A major part of injected cells die by necrosis and apoptosis, thus d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martinez Perea MDC ; Liste H ; Posadas Martinez MM | 2008The mitochondrial DNA point mutation T8993G has been associated with NARP and maternally inherited Leigh syndrome (MILS). Usually there is a correlation between the percentage of mutated mtDNA and clinical severity. Objectives: The aim is to sho[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kaneva G ; Laporte J ; Winsor B ; Friant S | 2008The human myotubularin gene (hMTM1) that is mutated in a severe congenital neuromuscular disease, X-linked myotubular myopathy (XLMTM), encodes a phosphatase specific for phosphatidylinositol 3-phosphate (PtdIns(3)P) and PtdIns(3,5)P2. In Saccha[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Abriat A ; Kozak G ; Brosset C ; Figarella-Branger D ; Monnier N ; Cozzone PJ ; Pellissier JF ; Lunardi J ; Bendahan D | 2008Exertional heat stroke (EHS) occurs in young, healthy individuals engaged in a strenuous physical activity and is accompanied by hyperthermic and lost of consciousness. Given that EHS and Malignant Hyperthermia (MH), a subclinical myopathy due t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Belayew A | 2008Facioscapulohumeral muscular dystrophy (FSHD) is considered a disorder of gene regulation. The pathological deletions contract the D4Z4 repeat array in the 4q35 subtelomeric region from 11 -150 units in healthy individuals down to 1-10 units in [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chien KR | 2008The heart is composed of diverse cell types: cardiac muscle, smooth muscle, conduction system, endothelial, valvular, and interstitial mesenchymal fibroblasts. Embryonic heart field precursors, marked by the expression of the isl1+ LIM homeodoma[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Peschanski M | 2008In a preliminary study published 8 years ago (Bachoud-Lévi et al., The Lancet 2000) we showed encouraging results of transplantations of foetal neuroblasts to the brain of patients with Huntington's Disease. Four out of the 5 grafted patients ex[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lipskaia L ; Colombe A ; Lehoux S ; Esposito B ; Atassi F ; Le Prince P ; Bonnet N ; Le Feuvre C ; Hatem S ; Hajjar R | 2008Coronary restenosis, results mainly from the proliferation of vascular smooth muscle cells (VSMC). Here, we determine whether in human arteries, the cardiac isoform of the sarco/endoplasmic reticulum calcium ATPase, SERCA2a controls VSMC prolife[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Acharjee S ; Friesen W ; Tomizawa Y ; Baiazitov R ; Lee S ; Nadarajan T ; Moon YC ; Sweeney L ; Welch EM | 2008PTC Therapeutics, Inc. (PTC) and Parent Project Muscular Dystrophy (PPMD) are collaborating to discover new drugs to treat Duchenne muscular dystrophy (DMD). Several targets were selected to enter the drug discovery program based on functional v[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Butler-Browne GS ; LeBihan MC ; Bigot A ; Gasnier E ; Furling D ; Bechet D ; Mouly V | 2008Muscle loss is the most common phenomenon of normal healthy aging and frequently leads to frailty and loss of independence in the elderly. It is important to understand the basic cellular mechanisms underlying this impairment. Decrease in muscle[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aubert S ; Giraud-Triboult K ; Rochon-Beaucourt C ; Denis J ; Laustriat D ; Baghdiguian S ; Gide J ; Furling D ; Champon B ; Kassar-Duchossoy L ; Martinat C ; Sermon K ; Peschanski M ; Pietu G | 2008In order to address early developmental events associated with the mutation in Myotonic Dystrophy type 1 (DM1), we took the opportunity of an existing human embryonic stem cell line (hES) derived from an embryo after pre-implantation genetic dia[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blandin G ; Marchand S ; Noulet F ; Gicquel E ; Barrault L ; Boucheteil J ; Formstecher E ; Meil A ; Collura V ; Daniele N ; Bartoli M ; Richard I | 2008To improve our understanding of the molecular pathways involved in the pathogenesis of muscular dystrophies and to allow identification of specific processes that may lead to future therapeutic strategies, we chose a domain-based yeast-two hybri[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Huchet-Cadiou C ; Carré-Pierrat M ; Lafoux A ; Tanniou G ; Gervier P ; Fougerousse F ; Ségalat L | 2008Several bioactive molecules, including antidepressants, efficiently prevent muscle necrosis in dystrophin-deficient C. elegans. We tested the effect of the antidepressant, Imipramine, on the muscle degeneration of mdx mice. The mdx 5cv strain wa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Risson V ; Corneloup C ; Mazelin L ; Sanchez H ; Rocerri M ; Richard H ; Vignaud A ; Bauche S ; Hantaï D ; Mueller M ; Kozma S ; Thomas G ; Ferry A ; Pende M ; Bigard X ; Koulmann N ; Schaeffer L | 2008The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that coordinates cellular responses to nutritional and growth factor conditions by controlling transcription, translation, cell size, cytoskeletal organization and autophagy. [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Toussaint A ; Nicot AS ; Tosch V ; Kretz C ; Bohm J ; Oldfors A ; Laporte J ; Mandel JL | 2008Centronuclear myopathies (CNM) are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibres without excessive regeneration. The severe neonatal X-linked form (myotubular myopathy, XLMTM) is due to mutations in the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arbogast S ; Muntoni F ; Ferreiro A | 2008Mutations of the selenoprotein N gene (SEPN1) have been identified as responsible for SEPN-related myopathy (SEPN-RM), an early-onset muscle disorder. Selenoprotein N is the only selenoprotein implicated in a human genetic disorder but its funct[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; L'Honoré A ; Coulon V ; Drouin J | 2008The myogenic program of cell differentiation is controlled by different groups of transcription factors acting during muscle development. We reported the expression of Pitx transcription factors throughout muscle development. The earliest member[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maxim D ; Otelea D | 2008DMD and BMD are transmitted as an X-linked recessive traits. Risks include a family history of DMD and BMD. Bayesians’ analysis may be used antenatally when DNA testing is uninformative or inconclusive .We report the family cases where the affec[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chapon F ; Gartioux C ; Ledeuil C ; Demay L ; Brinas L ; Herlicoviez D ; Allouche S ; Ferreiro A ; Leturcq F ; Richard P ; Allamand V ; Bonne G | 2008Collagen VI-related muscle disorders, due to mutations in the 3 genes encoding Collagen VI, regroup Ullrich congenital muscular dystrophy, characterized by early onset generalized muscle weakness, marked proximal contractures and distal hyperlax[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Zeitouni B ; Tévy MF ; Aerts S ; Herrmann C ; Potier D ; Sémériva M ; Capovilla M ; Perrin L | 2008A number of inherited cardiomyopathies affect cardiac muscle organogenesis emphasizing the need to improve our knowledge of heart formation. Recent advances have shed light on patterning informations that lead to cardiac muscle formation. Howeve[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Piazzon N ; Rage F ; Schlotter F ; Moine H ; Branlant C ; Massenet S | 2008The common neurodegenerative disease spinal muscular atrophy (SMA) is caused by reduced levels of the survival of motor neuron (SMN) protein. SMN associates with several proteins to form a large complex that is essential for the assembly and met[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kandalla P ; Jacquemin V ; Reiderer I ; Butler-Browne GS ; Mouly V | 2008Satellite cells, the post-natal muscle progenitors, are responsible for the regenerative capacity of skeletal muscle. They remain quiescent on the edge of muscle fibers, and become activated when fibres degenerate, either after trauma or in gene[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laumonier T ; Konig S ; Bader C ; Bernheim L ; Hoffmeyer P ; Menetrey J | 2008Cellular therapies for Duchenne muscular dystrophy and other muscle diseases are limited by a massive early cell death following injections. The quantification of cell survival is an essential step to evaluate the efficiency of myoblast transpla[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pigozzo S ; Repele A ; Reggiani C ; Ausoni S ; Zaglia T ; Baroni MD ; Ambegia E ; McLachlan I ; Vitiello L | 2008Antisense-mediated exon skipping holds great potential for the treatment of DMD. In mdx mice, functional recovery of skeletal muscle has been reported upon systemic delivery of “naked” oligonucleotides or viral vectors encoding for antisense snR[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Montarras D ; Pallafacchina G ; Cumano A ; Buckingham M | 2008Satellite cells are the main progenitor cells for skeletal muscle growth and regeneration under physiological conditions. The difficulty of purifying these quiescent cells in sufficient number has precluded their biochemical characterization. Pa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Skuk D ; Paradis M ; Goulet M ; Tremblay J | 2008Nonhuman primates are the ideal animal models for preclinical transplantation studies. In addition, in the case of myoblast transplantation, the behavior of these cells is similar to humans, in contrast to other animal models. Unfortunately, the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pal E ; Pfund Z ; Sütö G ; Horváth G | 2008The 49-year old man's case is presented, whose medical history was unremarkable, untill a hepatopathy was discovered 10 years ago. Serology and liver biopsy proved chronic hepatitis C virus (HCV) infection. In the first year interferon-alpha (IF[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Miranda R ; Sébrié C ; Degrouard J ; Jaillard D ; Laroche S ; Vaillend C | 2008Mdx mice provide a model of the human X-linked muscular dystrophy (DMD) caused by mutations in the DMD gene inducing absence of 427-KDa cytoskeletal protein dystrophin. Not only expressed in muscle fibers, dystrophin is also present in the posts[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh R ; Samadi A ; Carlson CG | 2008Although several reports indicate that dystrophic muscle exhibits elevated nuclear p65 activation, little is known regarding the disposition of the alternative pathway in dystrophic muscle. In nondystrophic muscle, several of the components of t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh R ; Millman G ; Polisiakeiwicz L ; Turin E ; Sumski C ; Samadi A ; Carlson CG | 2008The development of more efficacious treatments for Duchenne and related muscular dystrophies would be facilitated by an improved understanding of the mechanism which promotes enhanced nuclear p65 activation in dystrophic skeletal muscle. To acco[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mericskay M ; Blanc J ; Tritsch E ; Moriez R ; Aubert P ; Neunlist M ; Feil R ; Li Z | 2008SRF regulates the expression of muscle genes and immediate early genes and plays a crucial role in the heart and the skeletal muscles. Here, we investigated the consequences of inactivating SRF in adult gastrointestinal smooth muscle cells (SMCs[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desdouits M ; Huerre M ; Mouly V ; Rivière JP ; Butler-Browne GS ; Gessain A ; Ozden S ; Ceccaldi PE | 2008Background: HTLV-1 (Human T-Lymphotropic is a retrovirus that infects about 20 million people around the world and is the aetiological agent of two major diseases: Adult T Cell leukemia and Tropical Spastic Paraparesis; besides these diseases, i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Monnet A ; Wary C ; Wuyam B ; Verges S ; Duteil S ; Carlier PG | 2008Introduction: NMR is a powerful tool to assess musculo-skeletal perfusion and metabolism non-invasively and with a high time resolution. Blood oxygen level dependent (BOLD) NMR imaging readily provides contrast which depends on oxygenation but a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sandona D ; Gastaldello S ; Franzoso S ; Fanin M ; Angelini C ; Vidal J ; Basse N ; Reboud-Ravaux M ; Betto R | 2008Sarcoglycanopathies are progressive muscle wasting disorders caused by genetic defects of four proteins, ?-, ?-, ?-, and ?-sarcoglycan, elements of a key transmembrane complex of striated muscle. The proper assembly of the sarcoglycan complex re[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Brigitte M ; Plonquet A ; Tajbakhsh S ; Chazaud B ; Alberts M ; Gherardi R ; Chrétien F | 2008Perimuscular connective tissue has been poorly investigated at the cellular level although several inflammatory myopathies may exhibit huge epimysial macrophage infiltration. We examined murine muscle connective tissue in steady state conditions[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sarparanta J ; Vihola A ; Hackman P ; Richard I ; Udd B | 2008Tibial muscular dystrophy (TMD) is a dominant late onset distal myopathy caused by mutations in M-line titin. In the few homozygotes known, the same mutations lead to the different, more severe limb-girdle muscular dystrophy LGMD2J. Most of the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Le Guen L ; Notarnicola C ; de Santa Barbara P | 2008The gastrointestinal tract is a vital organ system present in all multicellular animals initially derived from a simple tubal structure. The morphology of the gut requires reciprocal signaling between the mesoderm and endoderm during development[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Di Giorgio F ; Carrasco M ; Siao MC ; Maniatis T ; Eggan K | 2008Here we report an in vitro model system to study the molecular and cellular mechanisms that underlie the neurodegenerative disease Amyotrophic Lateral Sclerosis (ALS). Embryonic stem (ES) cells derived from mice carrying transgenic alleles of t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mitchell KJ ; Sassoon D ; Marazzi G | 2008Non-satellite cells are known to possess myogenic potential and can participate in muscle regeneration, however, their precise position, origin and relationship to satellite cells remain unclear. During postnatal growth, PW1/Peg3, a gene co-expr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Skuk D ; Paradis M ; Goulet M ; Tremblay J | 2008The main constraint of the therapeutic strategy of intramuscularly injecting myogenic cells is that the implanted cells fuse only with the myofibers reached by the injection trajectories. An intravascular delivery of myogenic cells may be obviou[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fauré J ; Cacheux M ; Monnier N ; Brocard J ; Fourest-Lieuvin A ; Oddoux S ; Lunardi J ; Marty I | 2008Muscle contraction relies on efficient calcium release from sarcoplasmic reticulum (SR), performed by the ryanodine receptor (RyR1) upon cell stimulation. RyR1 is 5000 amino acids long, anchored in the membrane of SR, and coupled to the voltage-[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Skuk D ; Paradis M ; Goulet M ; Tremblay JP | 2008The main constraint of the therapeutic strategy of intramuscular myogenic-cell delivery is that the transplanted cells fuse only with the myofibers reached by the injection trajectories. This phenomenon is traditionally attributed to a “lack of [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rodriguez-Munoz R ; Mornet D ; Martinez-Rojas D | 2008?-Dystroglycan (?-DG) is a transmembrane protein that links the extracellular matrix with the cytoskeleton. This protein is a Dystrophin-associated protein (DAP) that has an important role in cell signaling, and cytoplasm and nuclear organizatio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stum M ; Bangratz M ; Bernard V ; Davoine CS ; Fontaine B ; Krejci E ; Nicole S | 2008Schwartz-Jampel syndrome (SJS) is a recessive disorder with neuromyotonia and chondrodysplasia that appear during childhood and slowly progress until adulthood. SJS results from hypomorphic mutations in the perlecan gene, a proteoglycan secreted[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Grifone R ; Jarry T ; Kelly RG | 2008Vertebrate craniofacial and trunk myogenesis are regulated by distinct genetic programs. Branchiomeric craniofacial muscles regulate jaw opening and closing, facial expression and laryngeal and pharyngeal function. These muscles correspond to th[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Faralli H ; Caubit X ; Coré N ; Fasano L | 2008Muscle growth and repair depend on Satellite Cells (SCs), myogenic stem cells located between the plasma membrane and the basal lamina of the myofiber. When muscles are damaged, SCs become activated, proliferate and differentiate to form multinu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laurent FX ; Marie J | 2008Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by an expanded CTG repeat sequence in the 3’ untranslated region of the DMPK gene. One of the most typical features is the disruption of alternative splicing of several pre-mRNA [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Roumes H ; Daury L ; Cottin P ; Brustis JJ | 2008Ubiquitous calpains (µ- and m-calpain) are proteases of which enzymatic and structural properties are well characterized. Their implication in the early stages of myogenesis and more particularly in the fusion and migration of myoblasts seems we[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pinset C | 2008The general objective of cell therapy techniques is to replace population of deficient cells to restore the functions of damaged tissue due to disease or traumatism. Cell therapy technologies and methods have already beed developed for muscle di[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gitiaux C ; Christov C ; Bassez G ; Dimitri D ; Authier FJ ; Gherardi R | 2008DM is considered as an humorally-mediated disease specifically targeting endomysial capillaries , but its pathophysiology remains uncertain. Recently, plamacytoid dendritic cells have been found in perimysium providing novel insights into immuno[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Khattar P ; Decostre V ; Catelain C ; Schwartz K ; Fiszman M ; Bonne G ; Vilquin JT | 2008Purpose: Islet-1+ cells are cardiogenic and angiogenic progenitors participating to heart formation. The first aim was to locate and quantify these cells in view of potential pre-clinical developments. The second aim was to compare their presenc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Konig S ; Bader CR ; Bernheim L | 2008Our work is based on human primary myoblast cultures derived from single satellite cells. Human myoblasts are able to proliferate for several weeks in culture, and terminal differentiation into myotubes can be induced by serum withdrawal. In hum[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Beroud C ; Hamroun D ; Desmet FO ; Lalande M ; Tuffery-Giraud S ; Humbertclaude V ; Collod-Béroud G ; Claustres M | 2008The development of new genotype based therapeutic approaches has reinforced the interest about Locus Specific Databases (LSDB). This field is a crossroad of bioinformatics, genetics, clinics and research and many initiatives have been developed [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maisonobe T ; Suominen T ; Eymard B ; Udd B | 2008Laing early-onset distal myopathy (MPD1) is an autosomal dominant myopathy due to mutations within the slow skeletal muscle fibre myosin heavy chain, MYH7. We report the phenotype of a French family with four affected individuals on two generati[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Méjat A ; Decostre V ; Renou L ; Kesari A ; Stewart CL ; Bonne G ; Hoffman E ; Misteli T | 2008The LMNA gene encodes lamins A and C, two intermediate filament type proteins that are important determinants of interphase nuclear architecture as they play essential roles in maintaining the integrity of the nuclear envelope and chromatin stru[...]