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Congrès: 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) (9-13 mai 2011)
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Documents disponibles provenant de ce congrès (374)
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Screen M ; Lehtimaki M ; Raheem O ; Laaksonen R ; Hackman P ; Krahe R ; Udd B | AFM-TELETHON | 2011Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of the ZNF9 gene. This causes a toxic RNA-mediated gain-of-function which leads to aberrant mRNA processing through sequestration of RNA[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pigozzo S ; Agostini J ; Wilton S ; Fletcher S ; Vitiello L | 2011Duchenne and Becker muscular dystrophy (DMD, BMD) are caused by mutations in the dystrophin gene. In general, DMD mutations disrupt the reading frame and leadto prematurely aborted dystrophin synthesis; conversely, mutations that leave the readi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Leroy M ; Darbellay B ; Bernheim L ; Konig S | AFM-TELETHON | 2011Our work focuses on the comprehension of the early steps of myoblast differentiation. The model we use consists of a human myoblast culture derived from satellite cells extracted from muscle biopsies. We previously showed that, to differentiate,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fritah A ; Steel JH ; Nichol D ; Parker N ; Williams S ; Price A ; Strauss L ; Ryder TA ; Mobberley MA ; Poutanen M ; Parker M ; White R | AFM-TELETHON | 2011The contractile function of the heart in early postnatal development and in adult is fuelled by ATP generated mainly from fatty acid oxidation in mitochondria. Because the heart has a limited capacity to store or synthesize fatty acids, cellular[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Catelain C ; Riveron S ; Mougenot N ; Jacquet A ; Papadopoulos A ; Vauchez K ; Bonne G ; Fiszman M ; Vilquin JT | AFM-TELETHON | 2011Cardiac cell replacement has emerged as a potent new therapy by regenerating irreversibly damaged heart areas in the setting of heart failure. Cell therapy approaches have been extensively developed in the indication of ischemic infarction, but [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bugiardini E ; Passeri E ; Sansone V ; Ambrosi B ; Corbetta S ; Renna LV ; Cardani R ; Meola G | 2011DM1 and DM2 are progressive multisystem genetic disorders that share a similar pathogenetic mechanism and clinical manifestations. The endocrine features include insulin resistance and testicular failure. Some clinical studies showed how hypogon[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sicot G ; Bichara M ; Huguet A ; Nicole A ; Gerard C ; Sergeant N ; Gourdon G ; Gomes Pereira M | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is an autosomic dominant multisystemic disorder caused by the expansion of a non-coding CTG trinucleotide repeat in the DMPK gene. Although traditionally regarded[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gradolatto A ; Nazzal D ; Truffault F ; Berrih-Aknin S | AFM-TELETHON | 2011Myasthenia gravis (MG) is a rare auto-immune disease that is often associated with thymic hyperplasia and inflammation. Inside the immune system, T cells have been shown to be impaired in MG patients. Indeed, even if numbers of T regulatory (Tre[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Skuk D | 2011Acute rejection of myofibers expressing alloantigens in nonhuman primates in which immunosuppression is not adequate is mainly driven by CD8+ and CD4+ lymphocytesthat focally accumulate to surround and invade these myofibers, which appear non-ne[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wary C ; Carlier RY ; Canal A ; Duteil S ; Hogrel JY ; Laforet P ; Carlier PG ; Pénisson-Besnier I | AFM-TELETHON | 2011In late-onset acid-maltase deficiency (LO-GSDII), evolution is generally slow and complicates evaluation. We report the case of a 43yr-old woman, in whom NMRI evidenced localised but dramatic degradation of quadriceps muscles over a 3yr period, [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Charbonnier F ; Branchu J ; Biondi O ; Deforges S ; Sanchez G ; Coté J ; Chanoine C ; Lopes P ; Pariset P ; Lancelin C | 2011Spinal Muscular Atrophy (SMA), a lethal neurodegenerative disease which occurs in childhood, is due to the misexpression of the survival-motor-neuron (SMN) proteinin motor-neurons. We have evaluated the effect of a running-based training (Gronda[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rendu J ; Fourest-Lieuvin A ; Brocard J ; Buclez PO ; Beley C ; Monnier N ; Lunardi J ; Pietri Rouxel F ; Garcia L ; Marty I | 2011In skeletal muscles, the ryanodine receptor of type 1 (RyR1) is the calcium channel by which calcium is released from the Sarcoplasmic Reticulum to the cytoplasm. This step leads to the contraction of the striated muscle fiber. Therefore, RyR1 i[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gaëlle R ; Allard B | 2011In skeletal muscle, contraction is induced by a massive release of calcium from the sarcoplasmic reticulum (SR) in response to depolarization of the cell. Duringsustained depolarization, a voltage-activated calcium influx is also known to occur [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lacour A ; Amati-Bonneau P ; Reynier P ; Defoort-Dhellemmes S ; Vignal C ; Fribourg-Desi M ; Romero NB ; Maurage CA ; Jardel C ; Vermersch P ; Eymard B ; Stojkovic T | AFM-TELETHON | 2011Background:Extra-ocular neurological signs are frequent in autosomal dominant optic atrophy (ADOA) due to OPA1 mutations. However, time course and severity of this extra-ocular involvement can vary. Observations:We report three families with ADO[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pakula A ; Mahler A ; Schmidt S ; Luft F ; Spuler S ; Boschmann M | AFM-TELETHON | 2011Facioscapulohumeral Muscular Dystrophy, Glucose Metabolism and Insulin Resistance A. Pakula, A. Mer, S. Schmidt, F.C. Luft, S. Spuler, M. Boschmann Franz-Volhard- Centrum fr Klinische Forschung, Charitiversitmedizin Berlin, Deutschland Hypothesi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jansen M ; de Jong M ; van Alfen N ; De Groot I | 2011Background: Clinically relevant outcome measures are necessary to monitor disease progression and to evaluate treatments in boys with Duchenne Muscular Dystrophy(DMD). Endurance is related to functioning in daily life and is, therefore, a clinic[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Revillod L ; Christov C ; Gourdon G ; Furling D ; Puymirat J ; Gherardi RK ; Bassez G | AFM-TELETHON | 2011The myotonic dystrophies (DM) include DM1 (or Steinerts disease), caused by expansion of a CTG triplet repeat in the 3' UTR of the DM protein kinase (DMPK) gene, and DM2 (myotonic dystrophy type 2), caused by expansion of a CCTG tetranucleotide [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ben Yaou R ; Demay L ; Chikhaoui K ; Hamroun D ; Beroud C ; Richard P ; Bonne G | 2011In 1999, we reported the first LMNA gene mutations responsible for the autosomal forms of Emery-Dreifuss muscular dystrophy (EDMD), this gene encoding nuclear envelope proteins, the lamins A/C. Since then, a huge number of patients carrying LMNA[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; L'Honoré A ; Montarras D ; Melki J ; Drouin J ; Buckingham M | AFM-TELETHON | 2011Pitx2 and Pitx3 genes are members of the Pitx gene family that encodes homeodomain transcription factors. Originally identified as important upstream regulators in the pituitary gland, Pitxs play a role in the formation of a number of tissues an[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Davidovic L ; Angeard Durand N ; Khalfallah O ; Bardoni B | 2011The Fragile X Mental Retardation-Related Protein 1 (FXR1P) is an RNA binding protein belonging to the Fragile X Related family, together with the Fragile X mentalRetardation Protein (FMRP). Seven alternatively spliced FXR1P isoforms have been id[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sanchez G ; Tadesse H ; Trinkle Mulcahy L ; Biondi O ; Charbonnier F ; Coté J | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is amongst the leading genetic causes of infant deaths and is characterized by specific degeneration and loss of spinal cord motoneurons. It is caused by the disruption of the "survival of motor neurons" gene (Smn1)[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Baron D ; Magot A ; Fayet G ; Houlgatte R ; Savagner F ; Pereon Y | 2011This study aimed to compare the skeletal muscle response at the transcriptional level in DMD and in Aging. DMD is a complex process involving multiple pathways downstream of the primary genetic insult leading to fatal muscle degeneration. Aging [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wojtowicz I ; Jagla T ; Jagla C ; Malgorzata D | 2011The gene lethal (2) essential for life (lefl), the Drosophiila orthologue of _B-crystallin involved in Desminopathies in human, codes for small heat shock protein wit chaperon activity. lefl is expressed during Drosophila development in embryoni[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brown S ; Ackroyd M ; Whitmore C ; Ashraf A ; Muntoni F | 2011Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, including M[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sacconi S ; Camano P ; de Greef J ; Lemmers R ; Salviati L ; Boileau P ; Lopez de Munain Arregui A ; van der Maarel S ; Desnuelle C | AFM-TELETHON | 2011The aim of this study was to identify the genetic and epigenetic defects in patients presenting with a FSHD clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis (LGE) and Southern blot analysis. We[...]