Convention information:
Convention: 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) (9-13 mai 2011)
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AFM
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Available documents from this convention (480)
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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[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Zhou J ; Veillet J ; Tiziano FD ; Servidei S ; Bertini E ; Brahe C ; Durand ME ; Topaloglu H ; Melki J | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by degeneration of lower motor neurons leading to progressive muscle paralysis. The most frequent form is linked to mutations of the SMN1 gene on C[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Voldoire E ; Godet E ; Chabault M ; Leroux S ; Jlali M ; Graulet B ; Pitel F ; Le Bihan Duval E ; Berri C ; Duclos M | AFM-TELETHON | 2011The enzyme beta, beta-carotene-15, 15'-monooxygenase, product of the BCMO-1 gene, is involved in the conversion of carotenoids into retinoids. We recently characterized a polymorphism in the putative promoter of the BCMO-1 gene, associated with [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nebigil-Desaubry C | 2011Prokineticins are potent angiogenic hormones that use 2 receptors, prokineticin receptor-1 (PKR1) and PKR2, with important therapeutic use in anticancer therapy. Observations of cardiac and renal toxicity in cancer patients treated with antiangi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jean-Louis F ; Dubois L ; Boukhatmi H ; deTaffin M ; Crozatier M ; Vincent A | AFM-TELETHON | 2011The diversity of human muscles is necessary to achieve proper coordinated movements. Each muscle displays a distinctive set of properties: size, shape, orientation, attachment sites to the skeleton and specific innervation. The fundamental quest[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Roux-Buisson N ; Santoni E ; Kyndt F ; Albuisson J ; Fauré J ; Lunardi J ; Pavin D ; Mabo P | 2011Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare familial arrhythmogenic disease, characterized by syncope or sudden death induced by emotional or physical stress. The mortality rate in untreated individuals ranges from 30 [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Michon CC ; Nadaj-Pakleza A ; Boneva N ; Payan C ; Gargiulo M ; Herson A ; Guichar-Gomez E ; Berthoux M ; Sarazin M ; Eymard B ; Labrune P ; Laforet P | AFM-TELETHON | 2011BACKGROUND. Glycogen storage disease type III (GSD III) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic affection including hepatic and myopathic symptoms. While frequent [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Argov Z | AFM-TELETHON | 2011The clinical and genetic features of hereditary inclusion body myopathy (HIBM)/ distal myopathy with rimmed vacuoles (DMRV), a disorder due to mutations in the Nacetylglucosamine epimerase/N-acetylmannosamine kinase (GNE) gene will be reviewed. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Strosova M ; Ruegg U ; Dorchies OM | AFM-TELETHON | 2011Green tea polyphenols (GTP) and their major compound epigallocatechin gallate (EGCG) are known for a wide range of health-promoting properties, such as antioxidant, anticancer, anti-inflammatory, antibacterial, antiviral, antifibrotic, hypolipid[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Berardinelli A ; Fagiolari G ; Vallejo D ; Lucchini V ; Bordoni A ; Lamperti C ; Ripolone M ; Corti S ; Balottin U ; Bresolin N ; Comi GP ; Sciacco M ; Moggio M | 2011Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of spinal cord anterior horn presenting with weakness and muscular atrophy. It is caused by mutations in SMN1 gene (Brahe C. 2001) and it is transmitted as a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cartaud J ; Cartaud A ; Stetzkowski-Marden F ; Maoui A | 2011Cholesterol/sphingolipid-rich membrane micro-domains or membrane rafts have been implicated in various aspects of receptor function such as receptor activation, trafficking and synaptic localization. More specifically in muscle, membrane rafts a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hubers L ; Valderrama-Carvajal H ; Laframboise J ; Sanchez G ; Coté J | AFM-TELETHON | 2011Spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by disruption of the survival of motor neuron gene, SMN, which promotes cytoplasmic assembly of the splicing core machinery. It remains unclear how a deficiency in SM[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bencze M ; Negroni E ; Yacoub-Youssef H ; Chaouch S ; Wolff A ; Di Santo J ; Chazaud B ; Butler-Browne GS ; Savino W ; Mouly V ; Riederer I | 2011Cell therapy has been envisaged for some genetic muscular disorders using myoblasts in order to deliver the missing protein. Although pre-clinical trials in the mouse were promising, therapeutic trials using local injection of myoblasts failed t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Bihan MC ; Bigot A ; Jensen SS ; Dennis JL ; Rogowska-Wrzesinska A ; Laine J ; Gache V ; Furling D ; Jensen ON ; Voit T ; Mouly V ; Coulton GR ; Butler Browne G | 2011Efficient muscle regeneration requires cross talk between multiple cell types via secreted signalling molecules. However, as yet there has been no comprehensive analysis of this secreted signalling network in order to understand how it regulates[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Laustriat D ; Gide J ; Barrault L ; Furling D ; Peschanski M ; Baghdoyan S | AFM-TELETHON | 2011Myotonic Dystrophy type 1 (DM1), the most common form of inherited muscular dystrophy in adults, is due to an unstable expansion of CTG triplet repeats in the 3'-untranslated region of the DMPK gene. This generates alternate splicing defects in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lejeune F ; Gonzalez S | 2011Nonsense mutations are responsible of about 8-10% of Duchenne muscular dystrophies. In most of cases, the consequence is the degradation of the premature termination codon (PTC)-containing mRNA by a mechanism called nonsense-mediated mRNA decay [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chaouch S ; Mamchaoui K ; Trollet C ; Bigot A ; Negroni E ; Wolff A ; Kandalla P ; Marie S ; Di Santo J ; Muntoni F ; Lacau Saint Guily J ; Spuler S ; Philippi S ; Blumen S ; Furling D ; Voit T ; Wright W ; Aamiri A ; Butler-Browne GS ; Mouly V ; Kandalla PK ; Kim J ; Blumen SC ; Wright WE | AFM-TELETHON | 2011We recently generated immortalized human myoblast cell lines from control donors, by transduction of these cells with both telomerase (hTERT) and cyclin-dependent kinase 4 (CDK-4) expressing vectors. These cells maintain their potential to diffe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gwenola M | 2011Almost one fifth of clinical trials of human gene therapy is based on the use of retroviral vectors for gene transfer. Their integration ensures stable transmission of the transgene to progeny cells. However, the provirus may influence host gene[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bourgeois A ; Duprez D | 2011Skeletal muscle development, growth and regeneration rely on muscle stem cells. An important goal is to understand the nature of the signals regulating these muscle stem cells during myogenesis. The signals regulating the pool of muscle progenit[...]