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Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
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Documents disponibles provenant de ce congrès (478)
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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[...]