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Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Dorchies OM ; Wagner S ; Waldhauser K ; Vuadens O ; Buetler TM ; Kucera P | 2005Communication n° 435 Duchenne Muscular Dystrophy (DMD) is a frequent inherited muscular disorder which is still fatal. DMD patients present with muscular weakness that progress towards paralysis. They usually die in the third decade because of r[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Fraysse B ; Liantonio A ; Giannuzzi V ; Camerino C ; Cocchi D ; Conte Camerino D | 2005Communication n° 306 Growth hormone secretagogues (GHS) stimulate GH release through the activation of a pituitary receptor. GHS binding sites were also found in various tissues including skeletal muscle. We recently showed that in vitro applica[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Yokota T ; Lu Q ; Davies K ; Fisher R ; Sakamoto M ; Miyagoe-Suzuki Y ; Takeda S ; Partridge T | 2005Communication n° 406. Duchenne muscular dystrophy and mdx mice result from absence of dystrophin. In both, sporadic clusters of revertant fibers (RFs) expressing dystrophin are found. Our previous studies suggested that RF foci arise from sponta[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bertini E ; Benedetti A ; Petrini S ; Boldrini R ; Ferrari M ; Menditto I ; Salvato L ; Goldfarb L ; D'Amico A | 2005Communication n° 412 Myofibrillar myopathy (MFM) is a group of neuromuscular disorders morphologically distinguished by disintegration of the Z-disk and of the myofibrils and by abnormal ectopic accumulation of multiple proteins, and clinically [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pinet C ; Lipskaia L ; Fromes Y ; Coulombe A | 2005Communication n° 678 Introduction : The development of coronary occlusion and vasospasm is related to the impairment of Ca2+ homeostasis occurring in several cardiomyopathies. The voltage-independent B-type Ca2+ channels have, in normal conditio[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mouisel E ; Chatonnet A ; Escourrou P ; Ferry A | 2005Communication n° 384 Introduction. Although AChE knockout mice survive they have abnormal locomotor activity. Because most cholinesterase inhibitors show little selectivity between acetylcholinesterase (AChE) and butyrylcholinesterase, it is dif[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Méjat A ; Ramond F ; Ravel Chapuis A ; Huze C ; Caussanel S ; Calhabeu F ; Ancelin K ; Gangloff Y ; Risson V ; Goillot E ; Schaeffer L ; Bassel Duby R ; Khochbin S ; Olson E | 2005Communication n° 92 Electrical activity arising from motor innervation influences skeletal muscle physiology by controlling the expression of many muscle genes, including acetylcholine receptor (AChR) subunits genes. How electrical activity is c[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Chazaud B ; Sonnet C ; Lafuste P ; Authier FJ ; Gherardi R | 2005Communication n° 331. Background : During skeletal muscle regeneration, myogenic precursor cells (mpc) attract monocyte/macrophages (MP) to set up their own stromal support necessary to a good regeneration. We previously shown that human mpc fir[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laing N ; Allcock R ; Scott A ; Nishino I ; Nonaka I ; Price P | 2005Communication n° 23 INTRODUCTION : Sporadic inclusion body myositis (sIBM) is a chronic inflammatory disease. We have previously identified two MHC haplotypes, HLA-A1,B8,DR3 and HLA-B35,DR1, that are associated with susceptibility to sIBM in Cau[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bitoun M ; Maugenre S ; Jeannet PY ; Ferrer X ; Romero NB ; Guicheney P | 2005Communication n° 411. One form of congenital myopathy, the centronuclear myopathy (CNM) is a rare neuromuscular disorder mainly characterized by delayed motor milestones, facial and muscular weakness, ptosis and ophtalmoplegia. The characteristi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Disset A ; Bourgeois C ; Stevenin J ; Claustres M ; Tuffery-Giraud S | 2005Communicatiion n° 233 Alteration of correct splicing by disruption of an exonic splicing enhancer is a frequent mechanism by which point mutations cause genetic diseases. Duchenne muscular dystrophy (DMD) is primarily caused by frame-disrupting [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Daniele N ; Marchand S ; Scheuermann V ; Danos O ; Bernot A ; Bartoli M ; Richard I | 2005Communication n° 465 Limb Girdle Muscular Dystrophies (or LGMD2) are a group of autosomal recessive dystrophies characterised by the specific atrophy of muscles from the scapular and pelvic girdles. Mutations affecting 10 different proteins have[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bakir H ; Jimenez J ; Hill M ; Marlow G ; Anderson L ; McNally E ; Richard I ; Bashir R | 2005Communication n° 704. Dysferlin is a sarcolemmal and vesicular protein whose deficiency causes limb-girdle muscular dystrophy type 2B, Miyoshi myopathy and anterior distal muscular dystrophy. Dysferlin is a member of the ferlin protein family, C[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Rafai M ; Gam I ; Fadel H ; Elouafi N ; El Otmani H ; El Moutawakil B ; Slassi I | 2005Communication n° 616 Orbital myositis is an idiopathic inflammation of the extraoccular muscles.it's often included under broad description orbital pseudotumor.commonoly it's unilateral affection. We report one case of bilateral orbital myositis[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jacquemin V ; Furling D ; Butler-Browne GS ; Mouly V | 2005Communication n° 716. Insulin-like Growth Factor 1 is a major factor for the regulation of the proliferation and the differentiation of satellite cells. It has been shown to enhance the replicative life span of satellite cells isolated from tran[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bouazza B ; Mamchaoui K ; Mouly V ; Perie S ; Lacau Saint Guily J ; Butler Browne G | 2005Communication n° 485 Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late onset neuromuscular degenerative disease characterised by proximal muscle weakness, ptosis and swallowing disorders. The genetic abnormality is an expan[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Barton E ; Feng X | 2005Communication n° 433. INTRODUCTION : Muscle regeneration is a highly regulated process. Upon damage, satellite cells of the periphery of muscle fibers undergo activation, proliferation, differentiation, and fusion to replace damaged tissue. Dama[...]Article
Lunardi J, Auteur ; Monnier N ; Romero NB ; Ferreiro A ; Marty I ; Labarre-Vila A ; Mezin P ; Nivoche Y ; Maclennan D ; Fardeau M, Auteur | 2005Communication n° 337. In muscle cells, the excitation-contraction (E-C) coupling process implies a calcium release complex mainly composed of two calcium channels, the dihydropyridine receptor-DHPR in the plasma membrane and the ryanodine recep[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; L'Honoré A ; Coulon V ; Marcil A ; Drouin J | 2005Communication n° 426. The Pitx genes are expressed in skeletal muscles during development and in the adult. Whereas Pitx1 and Pitx2 are expressed in a subset of muscle cells, Pitx3 appears to be widely expressed in skeletal muscle from early in [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Barillot W ; Bourdelas A ; Shi D | 2005Communication n° 705. The Purine Nucleoside Phosphorylase (PNP) catalyse the reversible conversion of a purine riboside to the corresponding base (purine nucleoside + phosphate = purine + alpha-d-ribose 1-phosphate). It's an important enzyme in [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Alexakis C ; Partridge T ; Bou-Gharios G | 2005Communication n° 420. Introduction : A distinctive feature of Duchenne muscular dystrophy (DMD) is excessive deposition of dense scar tissue, which occupies the interstitual spaces left by the dying muscle fibres. Repeated cycles of muscle degen[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pierron D ; Rocher C ; Rossignol R ; Murail P ; Letellier T ; Thoraval D | 2005Communication n° 17. The mitochondrial genetic diseases can be caused by more than 50 mtDNA mutations and 200 rearrangements. It has been already observed that several distinct mtDNA mutations can product the same disease and reciprocally severa[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bonnin-Rouleux F ; Bigot S ; Jegot G ; Bigot Y | 2005Communication n° 181 Improvement of a non viral gene transfer strategy Amelioration of cis-acting elements of transposon gene transfer vector derived from MosI. F. Bonnin-Rouleux, S. Bigot, G. Jegot and Y. Bigot Laboratoire d'Etude des Parasites[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Germon S ; Augé-Gouillou C ; Bonnin-Rouleux F ; Brillet B ; Bigot Y | 2005Communication n° 154 Improvement of a non-viral gene transfer strategy: Obtaining of hyperactive mutants of Mos1 Mariner transposase. S Germon, C Augé-Gouillou, F Bonnin-Rouleux, B Brillet and Y Bigot. Laboratoire d'Etude des Parasites Génétique[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Briguet A ; Courdier-Fruh I ; Foster M ; Erb M ; Meier T ; Lescop C ; Siendt H ; Herzner H ; Henneboehle M ; Weyermann P ; von Sprecher A ; Magyar J | 2005Communication n° 24 Calpain I and II are ubiquitous calcium-dependent cytosolic cystein proteases that are activated in dystrophin-deficient muscles. Inhibition of calpains by overexpression of its endogenous inhibitor calpastatin has been shown[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Golzio M ; Mazzolini L ; Moller P ; Rols MP ; Escoffre JM ; Teissié J | 2005Communication n° 148. Fluorescence imaging on live animal is a new efficient and reproducible method for in vivo detection of gene expression with time on the same animal. Linked to a gene of interest, natural fluorescent proteins (GFP, dsRed) u[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Carlier PG ; Leroy-Willig A ; Bureau M ; Scherman D | 2005Communication n° 274 Aim : In vivo gene electrotransfer is a simple method of gene delivery relying on the injection of plasmid DNA followed by application of electric pulses. In the prospect of its application to the future therapies of muscula[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Gary-Bobo CL ; Parlakian A ; Mericskay M ; Tuil D ; Daegelen D ; Paulin D ; Li Z | 2005Communication n° 99. Serum response Factor (SRF) is a muscle-enriched transcription factor that plays an important role in the regulation of contractile protein gene expression in mammalian heart. Strong SRF expression was observed in the myocar[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Rigault C ; Georges B ; Le Borgne F ; Demarquoy J | 2005Communication n° 261. Introduction : Extracellular adenosine triphosphate (ATP) is involved in the regulation of various events such as cell proliferation and muscle contraction. ATP acts through the activation of ionotropic P2X receptors and al[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Schwimmer C ; Lefebvre-Legendre L ; Rak M ; Devin A ; Slonimski P ; Di Rago JP ; Rigoulet M | 2005Communication n° 693 In a previous study, we have identified Fmc1p, a mitochondrial protein involved in the assembly/stability of the yeast F0F1-ATP synthase at elevated temperature. The ?fmc1 mutant was shown to exhibit a severe phenotype of ve[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Richard P ; Pollard H ; Lanctin C ; Bello-Roufai M ; Desigaux L ; Escande D ; Pitard B | 2005Communication n° 73 We have previously shown that intramuscular injection of plasmid DNA formulated with a non ionic amphiphile synthetic vector [poly(ethyleneoxide)13-poly(propyleneoxide)30-poly(ethyleneoxide)13 block copolymer; PE6400] increas[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Rocher C ; Bénard G ; Pierron D ; Faustin B ; Malgat M ; Rossignol R ; Letellier T | 2005Communication n° 15. Mitochondria possess its own circular double strand DNA (mtDNA) that is present in multiple copies in mammalian cells. However, this number can vary according to the nature and to the steady state of studied tissues[1,2]. In[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Stevens L ; Bozzo C ; Cieniewski-Bernard C ; Heydou J ; Bastide B ; Regianni C ; Mounier Y | 2005Communication n° 59. Alterations in the neural message could result in transformations of muscle phenotype and contractile properties via post-translational modifications. Here, we studied two types of modifications: the O-linked N-acetylglucosa[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Panteleeva I ; Rouaux C ; Rene F ; Loeffler JP ; Boutillier A | 2005Communication n° 674 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motoneurons in the cortex, brainstem and spinal cord. It is widely accepted that motoneurons die by apoptotic mechanisms but th[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Aricha R ; Feferman T ; Souroujon M ; Fuchs S | 2005Communication n° 449 Myasthenia gravis (MG) and experimental autoimmune MG (EAMG) are T-cell dependent antibody-mediated autoimmune disorders, in which the nicotinic acetylcholine receptor (AChR) is the major autoantigen. The anti-AChR response [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mouisel E ; Millet G ; Betems A ; Billat V ; Melki J | 2005Communication n° 323. Introduction : With the generation of mouse models of neuromuscular disorders, developing non-invasive methods to evaluate the physiological responses to stress represents an important goal. Moreover, the remarkable plastic[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Sarparanta J ; Vihola A ; Hackman P ; Udd B | 2005Communication n° 351. Introduction : Mutations in the exon Mex6, encoding the C-terminal domain M10 of titin, cause two separate muscle disease phenotypes. Tibial muscular dystrophy (TMD) is a dominant late onset distal myopathy. Finnish TMD pat[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Feferman T ; Maiti P ; Berrih-Aknin S ; Bismuth J ; Bidault J ; Fuchs S | 2005Communication n° 312 Myasthenia gravis (MG) and its animal model, experimental autoimmune MG (EAMG) are autoimmune disorders in which the acetylcholine receptor (AChR) is the major autoantigen. Microarray technology was used to identify new pote[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jardel C ; Sternberg D ; Laforet P ; Auré K ; Jan V ; Lemierre I ; Eymard B ; Lombès A | 2005Communication n° 479. The A3243G and A8344G mutations in tRNA Leu (UUR) and tRNA Lys genes are heteroplasmic mutations of mitochondrial DNA, which recurrents in mitochondrial disorders, but also in their asymptomatic maternal relatives. The aim [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Letournel F ; Verny C ; Dib N ; Amati-Bonneau P ; Bonneau D ; Reynier P | 2005Communication n° 114. Introduction : One of the most common of mtDNA mutations is the 3243A> G mutation of the tRNALeu(UUR) gene associated with Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS). This acronym summ[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Allard B ; Couchoux H ; Pouvreau S ; Jacquemond V | 2005Communication n° 224 Voltage independent cationic channels in the plasma membrane of skeletal muscle fibers are suspected to play a role in Duchenne dystrophy but the conditions and/or parameters that control their activity remain controversial.[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Guillet-Deniau I ; Abiola M ; Pichard A ; Martelly I ; Girard J | 2005Communication n° 77. Wnt factors are secreted proteins that activate myogenesis, but repress adipogenesis, as disruption of Wnt signaling induced transdifferentiation of myoblasts into adipocytes. We reported de novo lipogenesis in contracting m[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Roques C ; Salmon A ; Serose A ; Fiszman M ; Fattal E ; Fromes Y | 2005Communication n° 203 Background : Concerning myopathies, the treatment of cardiac impairment raises specific issues due to the structure and function of the myocardium. Thus, original routes of administration can be considered as direct injectio[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Balghi H ; Sebille A ; Patri S ; Thoreau V ; Constantin B ; Cantereau A ; Kitzis A ; Raymond G ; Cognard C | 2005Communication n° 227 Alteration of Ca2+ homeostasis is involved in Duchenne muscular dystrophy, which is characterized by a lack of the dystrophin protein. Skeletal muscle depolarization induces a massive release of stored calcium from the sarco[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Molgo J ; Adams D ; Colasante C ; Jaimovich E | 2005Communication n° 573 At the neuromuscular junction (NMJ) not yet well explored is the possible role of neuromuscular activity mediated via an IP3 cascade in perisynaptic Schwann cells, and in the postsynaptic elements of the NMJ. The well docume[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Angeard N ; Gargiulo M ; Jacquette A ; Eymard B ; Heron D | 2005Communication n° 525 Myotonic dystrophy type 1 (DM1) is an autosomal-dominant neuromuscular disease with an incidence of 1 in 8000 individuals. The gene is located on the chromosome 19q13.3 and it encodes for a protein with serine-threonine kina[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Praznikar A ; Klemen A ; Krajnik J ; Tomsic I ; Zupan A ; Hogrel JY ; Eymard B | 2005Communication n° 555. Neuromuscular disorders (NMD) are a heterogeneous group of diseases of motor unit with muscle weakness as the predominant clinical sign. Difficulties in gait are one of the most early and frequent complaints and often the m[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pou A ; Gamez J ; Gonzalo R ; Andreu AL | 2005Communication n° 424. Background : The 5703G> A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype (early onset, ophtalmoplegia, fatigabilty and ?extremely thin appearance?) according two patients with this [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Fornasari B ; Rouger K ; Leroux I ; Cherel Y | 01/01/2005Communication n° 611. In skeletal muscle, tissue growth and regeneration need the recruitment of the well-known satellite cells. These resident mononuclear cells constitute a sub-population of the Muscle-Derived Cells (MDCs), which also contain [...]Livre
Journée scientifique Annuelle de L'IFR 14 (Coeur, Muscle et vaisseaux; 17 Mars 2005; Paris) ; Carlier P ; Carrié A ; Jaisser F ; Wei W ; Barbaux S ; Karabina S ; Dupuis M ; Allamand V ; Adamy C ; Malka F ; Chevassier F ; Ishigaki K ; Vignier N ; Fayert G ; Mongue-Din H ; Meune C ; Duteil S ; Roques CF ; Villard E ; Hadri L ; Lipskaia L ; Neyroud N ; Pinet C ; Abi Char J ; Renault G ; Leroy-Willig A ; Bertoldi D ; Parzy E ; Amour J ; Collet JPH | Paris : Institut Fédératif de Recherche N°14 | 2005Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Meraouna A ; Clairac G ; Le Panse R ; Bismuth J ; Berrih-Aknin S | 2005Communication n° 471 Myasthenia Gravis (MG) is caused by autoantibodies against the acetylcholine receptor (AChR) and is often associated with thymic abnormalities. The hyperplastic thymus contains germinal centres (GCs), with B cells producing [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Oliveira J ; Vieira E ; Oliveira M ; Maia S ; Jorge P ; Fineza I ; Cabral A ; Ramos L. ; Moreira A ; Ferreira J ; Coelho T ; Fonseca M ; Santos R | 2005Communication n° 508 Introduction : Congenital muscular dystrophy type 1A (MDC1A) is the most frequent form of CMD in the European population, accounting for 30-50% of the cases. Clinical symptoms include hypotonia, elevated CK, no independent a[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jancsik V ; Mehes E ; Hegedus B ; Szabo B ; Vicsek T ; Satz J ; Campbell K | 2005Communication n° 492. Muller cells, the main glial cell type of the retina rely on interactions with extracellular matrix (ECM) molecules for the maintenance of their morphology and functions, Among the ECM molecules, laminin-1 is abundant in th[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Edstrom L ; Sejersen T ; Xiang F ; Hackman P ; Vihola A ; Hedberg B ; Gautel M ; Yakovenko A ; Brandmeier B ; Gunnarsson L ; Marchand S ; Richard I | 2005Communication n° 192 Introduction : Hereditary myopathy with early respiratory failure (HMERF) is a late onset disorder with autosomal dominant inheritance. It was described by Edström and collaborators in 1990 as a distinct, clinical phenotype [...]Article
Conde CB ; Taratuto AL ; Hauser MA | 2005Communication n° 636 Mutations in the gene encoding myotilin cause autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A). Only two LGMD1A pedigrees, carrying the mutations T57I and S55F, have been recognized after extensive world-wi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Stetzkowski-Marden F ; Marchand S ; Recouvreur M ; Camus G ; Cartaud J | 2005Communication n° 354 Cholesterol/sphingolipid-enriched microdomains or lipid rafts are involved in intracellular trafficking of selected proteins and lipids, in the formation of signaling complexes and actin cytoskeleton organization. In neurons[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Skuk D ; Roy B ; Goulet M ; Bouchard JP ; Chapdelaine P ; Roy R ; Dugré FJ ; Lachance JG ; Sylvain M | 2005Communication n° 1 Introduction : Used appropriately, myoblast transplantation (MT) could be a potential therapeutic tool in the treatment of myopathies: it can induce the expression of donor proteins in the myofibers of the recipient, and it ca[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Moog-Lutz C ; Degoutin J ; Brunet-De Carvalho N ; Gouzi J ; Cifuentes-Diaz C ; Frobert Y ; Créminon C ; Vigny M | 2005Communication n° 359. Anaplastic lymphoma kinase (ALK) is a tyrosine kinase receptor whose transcript is transiently expressed in specific regions of the central and peripheral nervous systems during development and remains present at a low leve[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Duguez S ; Roudaut C ; Yao R ; Galy A ; Svinartchouk F ; Danos O ; Richard I | 2005Communication n° 503 Muscular dystrophies often present a specificity of muscle involvement. For example, in Limb-girdle dystrophy 2A associated with mutations in gene encoding for calpain-3 protein, muscle weakness starts in Gluteus maximus and[...]Article
Communication 690. The aim of this study was to determine whether central (vestibular) and peripheral (proprioceptive and cutaneous) afferent informations perturbations could affect the spinal nervous message integration of the motoneuron pool w[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Najmabadi H ; Kahrizi K ; Ghamari A ; Riazal-Hosseini Y ; Parsa T ; Montazer-Haghighi M ; Urtizberea JA | 2005Communication n° 113 Spinal muscular dystrophy (SMA) is a hereditary neurodegenerative disease often causing death in early childhood. This disease is caused by anterior -horn-cell death in the spinal cord leading to paralysis and skeletal muscu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Arvieux C ; Rossignol B ; Metges PG ; Pennec JP ; Guérette B ; Gioux M ; Dorange G | 2005Communication n° 457 Introduction : Critical illness polyneuropathy (CIP) remains to be delineated since it includes several nervous and muscular entities occurring after a sepsis in critically ill patients. Few data are available on the cellula[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Le Grand F ; Talon S ; Mendili H ; Gardahaut MF ; Fontaine-Perus J | 2005Communication n° 702. We previously demonstrated that the fetal vascular endothelial cells (FVECs) isolated from mouse embryonic muscles can be a source of myogenic progenitors (Le Grand et al, 2004). Indeed, these cells primarily expressing the[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Peltzer J ; Musa H ; Peckham M ; Keller A | 2005Communication n° 273. Introduction : The regulation of striated muscle plasticity and its involvement in coordination of energy metabolism and contractile phenotype remain obscure. Using an animal model for reduced contractile activity, we previ[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Rossignol R ; Faustin B ; Bénard G ; Rocher C ; Malgat M ; Mazat JP ; Dacharry-Prigent J ; Letellier T | 2005Communication n° 4. Mitochondrial diseases are caused by mutations in mitochondrial or nuclear DNA. They generally lead to the impairement of mitochondrial oxidative phosphorylation that is responsible for cellular energy deprivation and redox i[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bénard G ; Faustin B ; Rocher C ; Malgat M ; Dacharry-Prigent J ; Rossignol R ; Letellier T | 2005Communication n° 11. To understand the physiopathology of mitochondrial diseases and explore potential metabolic therapeutic approaches necessitates a fundamental study of the biochemical mechanisms that intervene in the compensation for a pertu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nguyen F ; Masson MT ; Guigand L ; Goubault-Leroux I ; Lavault MT ; Primault R ; Wyers M ; Cherel Y | 2005Communication n° 282 Introduction : As blood vessels represent a promising route to deliver therapeutic genes or cells to dystrophic muscle, the question arises whether dystrophin deficiency is associated with impaired muscular vascularization, [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nascimiento A ; Sans A ; Briones P ; Montoya J ; Andreu T ; Pineda M ; Colomer J | 2005Communication n° 54. Introduction : Decrease mitochondrial thymidine kinase (TK2) activity is associated with mitochondria DNA (mt DNA) depletion syndromes (MDS) and respiratory chain dysfuntion. Mutations in TK2 gene have been associated with i[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Casseron W ; Paquis-Flucklinger V ; N'guyen K ; Azulay JP ; Attarian S ; Verschueren A ; Figarella-Branger D ; Pellissier JF ; Pouget J | 2005Communication n° 684 Introduction : Multiple deletions of mitochondrial DNA (mtDNA) were first reported in families with autosomal dominant inherited progressive external ophtalmoplegia (ad-PEO). Since that time, multiple mtDNA deletions were al[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Letellier T ; Faustin B ; Rocher C ; Bénard G ; Malgat M ; Rossignol R | 2005Communication n° 7. The existence of a biochemical threshold effect in the metabolic expression of oxidative phosphorylation deficiencies has considerable implications for the understanding of mitochondrial bioenergetics and the study of mitocho[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Konig S ; Hinard V ; Beguet A ; Arnaudeau S ; Bader CR ; Bernheim L | 2005Communication n° 144. We have showed previously that human myoblasts must hyperpolarize to approximately -70 mV before they can proceed through the differentiation process. This hyperpolarization occurs through the expression of Kir2.1 K+ channe[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Krahn M ; Nguyen KC ; Bernard R ; Bassez G ; Labelle V ; Figarella-Branger D ; Pouget J ; Hammouda EH ; Ben Yaou R ; Beroud C ; Urtizberea JA ; Eymard B ; Leturcq F | 2005Communication n° 407 INTRODUCTION : Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrop[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Herczegfalvi A ; Piko H ; Merkli H ; Horvath R ; Toth A ; Karcagi V | 2005Communication n° 466 Introduction : Myotonic dystrophy type 1 (DM1) is a diffuse systemic disorder in which the most prominent features, i. e. myotonia and muscular atrophy may be accompanied by cataracta, gonadal atrophy, endocrine abnormalitie[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bernard R ; Pêcheux C ; Pouget J ; Hammouda EH ; Urtizberea JA | 2005Communication n° 522 Hereditary Inclusion Body Myopathy (HIBM) is a recessive autosomal disorder which has been related in 2001 to mutations in the GNE gene. Clinically, the disorder is slowly progressive, with adult onset and is characterized b[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Maamouri W ; Amouri R ; Hentati F | 2005Communication n° 530 Background: Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that results in loss of motoneurones in the spinal cord. SMA is classified into three groups depending on age of onset and s[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Cartaud A ; Strochlic L ; Guerra M ; Blanchard B ; Lambergeon M ; Cartaud J ; Legay C | 2005Communication n° 647 In cholinergic synapses, the level of Acetycholine (ACh) is controlled in space and time by Acetylcholinesterase (AChE). At neuromuscular junctions, the enzyme is mostly accumulated in the synaptic basal lamina by a specific[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Luckman SP ; Skeie GO ; Helgeland G ; Gilhus NE | 2005Communication n° 371 Introduction: Myasthenia gravis (MG) is caused primarily by autoantibodies directed against the nicotinic acetylcholine receptor (AChR), with additional anti-muscle autoantibodies being detected in some MG patients. The role[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jeannet PY ; Schorderet DF ; Payot M ; Jeanrenaud X ; Bottani A ; Superti-Furga A ; Schlaepfer J ; Fromer M ; Lobrinus A | 2005Communication n° 646 Danon's disease belongs to the autophagic vacuolar myopathies. It presents with a hypertrophic cardiomyopathy associated with a mild skeletal myopathy and often a mental retardation. The disease is X-linked and is caused by [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Gantelet E ; Kraftsik R ; Gourdon G ; Kuntzer T ; Barakat-Walter I | 2005Communication n° 272. Myotonic muscular dystrophy (DM type 1 or DM1) is an inherited autosomal dominant disease characterized by myotonia, weakness and muscular atrophy and involvement of many other organs. This complex disease results from an a[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Féasson L ; Bérard C ; Payan C ; MFM Collaborative Study Group | 2005Communication n° 608. In order to improve the knowledge of natural history of each aetiology of neuromuscular diseases, to select patients for therapeutic trials and to quantify outcomes of therapeutic measures, we needed precise tools to object[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bidaud I ; Monteil P ; Nargeot J ; Lory P | 2005Communication n° 80. Skeletal muscle (SM) differentiation depends on Ca2+, but whether Ca2+ entry through voltage- dependent Ca2+ channels (VDCCs) contribute to SM differentiation or regeneration is yet unclear. Two types of VDCCs have been desc[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bertoldi D ; Wary C ; Noah L ; Carlier P | 2005Communication n° 451. Introduction : Dynamic multi-parametric functional (mpf) NMR consists in confronting rapidly interleaved NMR spectroscopy (NMRS) and imaging (NMRI) data (on the order of seconds) to explore multiple facets of system regulat[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Uzenot D ; Verschueren A ; Attarian S ; Vianey-Saban C ; Pellissier JF ; Pouget J | 2005Communication n° 679 INTRODUCTION ETF-QO deficiency is a rare cause of myopathy. Three forms have been described : two forms with a neonatal onset (type I,II), and a late onset form (III). Very few late onset cases have been published in adultho[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Karcagi V ; Nagy B ; Herczegfalvi A ; Piko H | 2005Communication n° 427 Introduction : Duchenne and Becker muscular dystrophy (DMD/BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. The majority (2/3) of recognized mutations are copy number changes in o[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Hogrel JY ; Ledoux I ; Duchêne J ; Garcia-Gonzalez MT | 2005Communication n° 329. Computing muscle conduction velocity distributions (MCVD) can be of highest interest since modifications in the action potential propagation characteristics do not generally affect uniformly the fibers of a muscle. Furtherm[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Thiébaud P ; Pasquet S ; Naye F ; Barillot W ; Faucheux M ; Faydou S ; Thézé N | 2005Communication n° 430. Development and differentiation of muscle cells is accompanied by the transcriptional activation of batteries of genes, some of them being expressed in a specific muscle lineage while others are expressed in all three linea[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Boldrin L ; Malerba A ; Flaibani M ; Piccoli M ; Slanzi E ; Pozzobon M ; Messina C ; Zanesco L ; Gamba PG ; Elvassore N ; Vitiello L | 2005Communication n° 565 Introduction : Tissue engineering is a developing strategy to replace or repair congenital or acquired large muscle defects and to improve the outcome of muscle dystrophies and others genetic deficiencies. Objectives : In ou[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ceccaldi P ; Mouly V ; Prévost M ; Gessain A ; Butler-Browne GS ; Ozden S | 2005Communication n° 644 Background : HTLV-1 (Human T-lymphotropic Virus-1), the first retrovirus identified in man, infects about 20 million people around the world. It is the aetiological agent of two major diseases : Adult T Cell Leukemia and Tro[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bouhour F ; Vial C ; Rolland MO ; Baverel G | 2005Communication n° 613 A 24-year-old Caucasian girl, without familial history of metabolic myopathy, presented weakness, intense myalgia and exercice intolerance without second wind since early infancy. In childhood, she was admitted twice to hosp[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lafoux A ; Divet A ; Gervier P ; Huchet-Cadiou C | 2005Communication n° 260. The muscular fatigue observed during prolonged activity of skeletal muscles induces a loss of functional capacity mainly due to a variety of metabolic changes, like acidosis, accumulation of inorganic phosphate (Pi), deplet[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Benveniste O ; Farrugia M ; Clover L ; Vincent A | 2005Communication n° 537 Introduction: Recently, antibodies to the muscle specific tyrosine kinase (MuSK) have been identified in a proportion of patients with myasthenia gravis without acetylcholine receptor (AChR) antibodies. MuSK is a receptor ty[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Milic A ; Canki-Klain N | 2005Communication n° 236 INTRODUCTION : Calpainopathy or limb girdle muscular dystrophy type 2A (LGMD 2A; OMIM 253600) is an autosomal recessive muscular disorder characterized by symmetrical and selective atrophy of proximal limb muscles. It is cau[...]Article
Chevessier F, Auteur ; Faraut B ; Ravel Chapuis A ; Richard P ; Gaudon K ; Bauche S ; Prioleau C ; Herbst R ; Goillot E ; Ioos C ; Azulay JP ; Attarian S ; Leroy JP ; Fournier E ; Legay C ; Schaeffer L ; Koenig J ; Fardeau M ; Eymard B ; Pouget J ; Hantaï D | 2005Communication n° 225 : We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two heteroallelic mutations, a[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Sacconi S ; Vilquin JT ; Marolleau JP ; Desnuelle C | 2005Communication n° 60 OBJECTIVE: To assess the biological properties of myogenic cells prepared from unaffected muscles of FSHD patients and compared them with that of FSHD affected muscles and matched control myoblasts in the perspective of an au[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pou A ; Olive M ; Goldfarb LG ; Lloreta J | 2005Communication n° 422 Background: Mutations in myotilin gene have been described in two families with LGMD1A and, more recently in a subset of patients suffering from myofibrilar myopathy (MM). Objective: To describe the clinical, pathological, e[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Galy A ; Dumonceaux J ; Yao R ; Morisot S ; Haond C ; Farace F | 01/01/2005Communication n° 666. Obtaining an effective regeneration of adult skeletal muscle constitutes a challenge, in part because of a poor understanding of the nature and origin of skeletal progenitor cells. Several groups have examined the possibili[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Calado P ; Caldeira S ; Carmo-Fonseca M | 2005Communication n° 167 Expansion of a polyalanine tract in the N-terminal region of the Poly(A)-Binding Protein Nuclear 1 (PABPN1) causes Oculopharyngeal Muscular Dystrophy (OPMD), a dominantly inherited, late onset disease. Ptosis, dysphagia and [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Dechesne CA ; Massoudi A ; Rodriguez AM ; Ailhaud G ; Dani C | 2005Communication n° 36. Multipotent adipose-derived stem (hMADS) cells have been isolated from the white adipose tissue removed from surgical scraps of infants undergoing surgery. The establishment and characterization of these cells have been desc[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Negroni E ; Mouly V ; Butler-Browne GS | 2005Communication n° 514 After birth, adult skeletal muscle growth and repair are mediated by a population of cells, normally mitotically quiescent and located under the basal lamina of the myofibers, called satellite cells. In response to muscle da[...]Livre
Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lesca G ; Salzmann M ; Pélissier JF ; Aubourg P ; Mey C ; Topaloglu H ; Streichenberger N | 2005Communication n° 575 Introduction : X-linked myopathy with excessive autophagy (XMEA) is a rare genetic muscular disease with usually childhood onset progressive disease of skeletal muscle without cardiac or other organ involvement. The disease [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Noirez P ; Agbulut O ; Butler-Browne GS | 2005Communication n° 461 Myosin heavy chain (MyHC) is one of the major components of the contractile apparatus of all striated muscles. MyHC is encoded by a multigene family, the members of which are expressed in a tissue-specific and developmental [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Gorni K | 2005Communication n° 143. Introduction : The absence of dystrophin protein leads to different phenotypes in different species, despite complete loss of dystrophin in all muscles. Human DMD patients show chronic degeneration/regeneration with progres[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Olive M ; Goldfarb L ; Shatunov A ; Fischer D ; Huerta M ; Moreno D ; Ferrer I | 2005Communication n° 316 Introduction : Mutations in myotilin have been previously associated with limb girdle muscular dystrophy type 1A and a subgroup of myofibrillar myopathy. Objective : To analyze clinical/pathological manifestations associated[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Leroy O ; Dhaenens CM ; Maurage CA ; Vermersch P ; Buee L ; Sablonnière B ; Sergeant N ; Caillet-Boudin ML | 2005Communication n° 286 Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder caused by an expansion of CTG repeats in the 3'UTR of the DMPK gene. Major clinical features are myotonia, muscle weakness, cardiac arrhythmia, insulin resist[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Tomczak KK ; Zerra PE ; Buj Bello A ; Pierson CR ; Sanoudou D ; Laporte J ; Mandel JL ; Beggs AH | 2005Communication n° 574. Myotubularin (MTM1) is a phosphoinositide phosphatase that is mutated in X-linked myotubular myopathy (XLMTM), a congenital myopathy characterized by hypotonia, generalized muscle weakness and increased centronucleation of [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mège RM ; Gavard J ; Marthiens V ; Lambert M | 2005Communication n° 241. N-cadherin is expressed throughout skeletal myogenesis, and has been proposed to be involved in the differentiation program of myogenic precursors. We further characterized the N-cadherin involvement and its mechanism of ac[...]Article
A national survey of pain in muscular disorders (abstract : congrès international de Myologie, 2005)
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Guy-Coichard C ; Boureau F | 2005Communication n° 193 Background : There is few available data related to pain in neuromuscular disorders (NMD). The aim of our study is to appreciate the prevalence of pain, pain intensity (PI), disability levels and treatment satisfaction in a [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Auré K ; Eymard B ; Laforet P ; Ogier de Baulny H ; Jardel C ; Lombès A | 2005Communication n° 378. Mitochondrial DNA (mtDNA) deletions are associated with three main phenotypes with very different severity. Two of them are severe multisystemic disorders (Pearson, Kearns-Shy Sayre (KSS) syndromes), and one is much milder [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Desigaux L ; Pitard B ; Bello-Roufai M ; Lambert O ; Richard P ; Fernandes S ; Lanctin C ; Pollard H ; Zeghal M ; Rescan P ; Escande D | 2005Communication n° 74 Over the past decade, numerous nonviral cationic vectors have been synthesized. They share a high density of positive charges and efficiency for gene transfer in vitro. However, their positively charged surface causes instabi[...]Article
Article
Report of a muscular dystrophy campaign funded workshop (January 16th 2004; Birmingham, UK) ; Roper H ; Davie M ; Shaw NJ ; McDonagh J ; Bushby K | 2005Accès au résumé Pubmed/to pubmed abstractArticle
Accès au résumé PubMed / to PubMed abstractArticle
Collectif ; Burghes A ; Bushby K ; Estournet Mathiaud B ; Finkel RS ; Hughes RAC ; Iannaccone ST ; Melki J ; Mercuri E ; Muntoni F ; Voit T ; Reitter B ; Swoboda KJ ; Tiziano D ; Tizzano E ; Topaloglu H ; Wirth B ; Zerres K | 2005Accès au résumé PubMed / to PubMed abstractArticle
Accès au résumé PubMed / to PubMed abstractArticle
Beeson D ; Hantaï D ; Lochmuller H ; Engel AG | 2005Accès au résumé PubMed / to PubMed abstractArticle
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Girard E ; Camp S ; Taylor P ; Krejci E ; Molgo J | 2005Communication n° 559 At the neuromuscular junction (NMJ) two closely related enzymes can hydrolyze acetylcholine (ACh): acetylcholinesterase (AChE) and butyrylcholinesterase (BChE). Although the role of AChE in regulating the duration of ACh act[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Roccella M ; Parisi L | 2005Communication n° 132. Background : Impairment of intelligence in Duchenne muscular dystrophy (DMD) was described by Duchenne de Boulogne himself in 1868.Further studies reported intelligence disorders with major impairment of memory and language[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lefvert AK ; Kakoulidou M ; Sakthivel P ; Wang XB ; Zhao X ; Pirskanen R | 2005Communication n° 446 Introduction : Recent research shows that the autoantibodies are not the only determining factors for the disease. Thus, we have focused on other pathogenic mechanisms. Results : Identical twins discordant for myasthenia hav[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Suominen T ; Raheem O ; Hackman P ; Vihola A ; Auranen M ; Haapasalo H ; Udd B | 2005Communication n° 320 Introduction : Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders. Genetically LGMDs are divided into seven autosomal dominant (LGMD1A-G) and ten autosomal recessive (LGMD2A-J) forms. LGMD2A (calpain[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Maugenre S ; Makri S ; Terki N ; Mansouri B ; Toda T ; Beroud C ; Quijano Roy S ; Ait Kaci M ; Romero NB ; Guicheney P | 2005Communication n° 453 The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders. Several of their forms show abnormal brain features. Whilst merosin-deficient CMD is associated with diffuse white matter [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vignier N ; Fraysse B ; Pointu H ; Mougenot N ; Schwartz K ; Vernet M ; Carrier L | 2005Communication n° 240 Cardiac myosin-binding protein C (cMyBP-C) gene mutations are frequently involved in familial hypertrophic cardiomyopathy (FHC). Some missense mutations have been associated with a severe phenotype (significant cardiac hyper[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Stéphan L ; Mills PL ; Pichavant C ; Tremblay J | 2005Communication n° 173 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular recessive disease characterized by widespread muscle damage throughout the body. No cure is currently available for DMD. Our research group is pursuing a research pr[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Duteil S ; Wary C ; Raynaud JS ; Lebon V ; Lesage D ; Leroy-Willig A ; Carlier P | 2005Communication n° 502. Introduction : The NMR signal intensity depends, among many factors, on blood oxygenation, giving rise to blood oxygen level dependent (BOLD) contrast, the mechanisms of which are complex and depend on parameters prone to l[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mitrani-Rosenbaum S ; Salama I ; Hinderlich S ; Shlomai Z ; Eisenberg I ; Krause S ; Yarema KJ ; Argov Z ; Reutter W ; Lochmuller H ; Dabby R ; Sadeh M ; Ben-Bassat H | 2005Communication n° 200 Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult-onset, slowly progressive distal and proximal muscle weakness, caused by mutations in UDP-N-acetylglucosamine 2-ep[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bartoli M ; Poupiot J ; Goyenvalle A ; Garcia L ; Danos O ; Richard I | 2005Communication n° 222 Muscular dystrophies are a genetically and phenotypically heterogeneous group of degenerative muscle diseases. A subset of them are due to genetic deficiencies in proteins participating in the dystrophin-associated complex a[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Hassani Z ; Lemkine G ; Alfama G ; Erbacher P ; Giovannangeli C ; Palmier K ; Behr JP ; Demeneix BA | 01/01/2005Communication n° 720. It is only three years since the initial demonstration that short interference RNA (siRNA) functions as a gene silencing mechanism in mammalian cells, a finding that opened up enormous perspectives for analysing gene functi[...]Article
Grattan MJ ; Kondo C ; Thurston J ; Alakija P ; Burke BJ ; Stewart C ; Syme D ; Giles WR | 2005Accès au résumé PubMed / to PubMed abstractArticle
Accès au résumé PubMed / to PubMed abstractArticle
Margalit A ; Liu J ; Fridkin A ; Wilson KL ; Gruenbaum Y | 2005Accès au résumé PubMed / to PubMed abstractArticle
Nowak K ; McCullagh K ; Poon EP ; Davies KE | 2005Accès au résumé PubMed / to PubMed abstractArticle
Kozlov S ; Mounkes L ; Cutler D ; Sullivan T ; Hernandez L ; Rottman J ; Stewart CL | 2005Accès au résumé PubMed / to PubMed abstractArticle
Wilson KL ; Holaska JM ; Montes de Oca R ; Tifft K ; Zastrow MS ; Segura-Totten M ; Mansharamani M ; Bengtsson L | 2005Accès au résumé PubMed / to PubMed abstractArticle
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Buj Bello A ; Toesch V ; Tomczak KK ; Nicot AN ; Kretz J ; Duval G ; Beggs AH ; Laporte J ; Mandel JL | 2005Communication n° 289. X-linked myotubular myopathy (XLMTM) is a severe congenital muscular disease characterized by generalized hypotonia and respiratory insufficiency at birth. The mutated gene, MTM1, is composed of 15 exons and encodes a prote[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pêcheux C ; Krahn M ; Bernard R ; Hammouda EH ; Urtizberea JA ; Leturcq F ; The French Network on LGMD | 2005Communication n° 410 INTRODUCTION : Limb Girdle Muscular Dystrophies (LGMD) constitute a genetically and clinically heterogeneous group of autosomal dominant (LGMD1) or recessive (LGMD2) inheritance. LGMD2A is caused by mutations in the gene enc[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Dunand M ; Leturcq F ; Kuntzer T | 2005Communication n° 127 Introduction : Duchenne's (DMD) and Becker's (BMD) muscular dystrophies are allelic X linked MD due to mutations in the dystrophin gene. Large deletions are the cause of most cases, and point mutations are probably underdiag[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laumonier T ; Yang SH ; Konig S ; Hoffmeyer P ; Menetrey J | 2005Communication n° 157 Introduction : Myoblast transplantation is a widely investigated cell therapy technique for the potential treatment of muscle injury, cardiac failure and inherited myopathies. We have showed recently that pig is an adequate [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Benabdallah BF ; Rousseau J ; Bouchentouf M ; Tremblay J | 2005Communication n° 172. Background : Duchenne muscular dystrophy is a severe myopathy caused by the absence of a functional dystrophin in muscles. Transplantation of normal myoblasts is a potential therapy that permits to restore the expression of[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mahoney D ; Kaczor J ; Bourgeois J ; Yasuda N ; Tarnopolsky M | 2005Communication n° 68 ALS is caused by motor neuron loss in the spinal cord, although the mechanism(s) responsible are not known. Ubiquitous transgenic expression of familial ALS causing mutations in human copper/zinc superoxide dismutase (hSOD1mu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Klein A ; Corbeil-Girard LP ; Sasseville M ; Dicaire MJ ; Saint-Denis A ; Page M ; Karpati G ; Rouleau G ; Massie B ; Langelier Y ; Brais B | 2005Communication n° 667 Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with a worldwide distribution. Intranuclear inclusions (INIs) in skeletal muscle fibers are its pathological hallmark. The dominant OPMD [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Grabowska I ; Kawiak J ; Brzoska E ; Machaj E ; Pojda Z ; Moraczewski J | 2005Communication n° 242. Introduction : Process of skeletal muscle regeneration depends on the presence of satellite cells. It is postulated that stem cells from different tissues, such as bone marrow, can be involved in this process. Yet, the fate[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lagha M ; Relaix F ; Rocancourt D ; Cumano A ; Buckingham M | 2005Communication n° 712. In the mouse embryo Pax3, which encodes a paired- and homeo-domain containing transcription factor, acts genetically upstream of the myogenic program and is essential for the determination of skeletal muscle progenitor cell[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Cheraud Y ; Kacul C ; Mimault B ; Fontaine-Perus J | 2005Communication n° 285 Signals originating from tissues around somites are involved in their mediodorsal and dorsoventral patterning and myogenesis. For example, the dorsal part of the somite responds to signals from the dorsal neural tube as well[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Garcia M ; Pujol A ; Riu E ; Ruzo A ; Arbos A ; Ruberte J ; Feliu JE ; Bosch F | 2005Communication n° 587 Type VII glycogenosis, or Tarui's disease, is a muscular disorder characterized by the appearance of muscular fatigue, hemolysis and myoglobinuria after exercise. It is associated with an abnormal accumulation of muscle glyc[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bortoli S ; Rochon C ; Vandebrouck C ; Duverger V ; Vaigot P ; Amiot F ; Gidrol X ; Pietu G | 2005Communication n° 149. The goal of our study was to isolate homogenous murine cell population enriched in muscle stem cells and to determine the phenotype and the transcriptional signature of these cells. We developed primary culture of muscle ce[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bouhlal Y ; El Euch-Fayache G ; Amouri R ; Hentati F | 2005Communication n° 528 Background : Autosomal recessive ataxias represent a large group of neurodegenerative disorders characterized by progressive degeneration of the central and the peripheral nervous systems. Objective : To report clinical, neu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Chevalier B ; Duval-Kerjoant H ; Chauveau-Vanouche S ; Dejouy-Vaslin D ; Boulinguez A ; Parthenay O ; Budail A ; Pénisson-Besnier I ; Richard I ; Fossé G ; Goizet N | 2005Communication n° 307 Privately taking charge of patients suffering from neuromuscular diseases does encounter various difficulties such as competences of physiotherapists, technical problems, pricing. Objective : Present the activity of a privat[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Cerecedo D ; Martinez D ; Chavez O ; Mornet D ; Rendon A ; Mondragón R | 2005Communication n° 256. Platelet cytoskeleton is constituted by a complex group of proteins responsible for the dramatic changes in cell shape and volume that occur during platelet activation. This process, which involves both granular secretion a[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Leturcq F ; Deburgrave N ; Llense S ; Barbot JC ; Gonzales C ; Récan D ; Garcia L ; Kaplan JC ; Chelly J ; Peccate C | 2005Communication n° 534 Straightforward detectable dystrophin gene rearrangements, such as deletion or duplications involving one entire exon or more, are involved in about 70% of Dystrophinopathies (i.e. Duchenne and Becker muscular dystrophies). [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Liotta D ; Taylor M | 2005Communication n° 723. The balance between influences that promote or restrain muscle progenitor differentiation is central to correct muscle development. Moreover, detailed understanding of the mechanisms regulating this equilibrium is important[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Barani A ; Pradat P ; Frachon P ; Lombès A ; Meininger V ; Butler-Browne GS ; Mouly V | 2005Communication n° 300 Amyotrophic Lateral Sclerosis (ALS) is the most frequent fatal motoneuron disease. Degeneration of the motoneurons causes a progressive paralysis of the limbs, an amyotrophy and respiratory insufficiency, which is the main c[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Calhabeu F ; Goillot E ; Schaeffer L ; Bass D ; Cousin X | 2005Communication n° 681. The pleckstrin homology domain-containing protein CKIP-1 was isolated in a yeast two-hybrid screen using CK2 alpha as bait. CKIP-1 is expressed in several human normal tissues, including brain, placenta, lung and heart. Its[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Authier FJ ; Le Beller C ; Boutouyrie P ; Le Louet H ; Gherardi RK ; Laurent S | 2005Communication n° 396 Background: Macrophagic myofasciitis (MMF) is a recently described muscular pathological lesion assessing persistence of aluminium hydroxide at site of previous intramuscular (im) injections of aluminium hydroxide-containing[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Steffann J ; Gigarel N ; Frydman N ; Burlet P ; Bonnefont JP ; Ray P ; Feyereisen E ; Tachdjian G ; Frydman R ; Kerbrat V ; Munnich A | 2005Communication n° 649 Preimplantation genetic diagnosis (PGD) for women carrying pathogenic mitochondrial DNA (mtDNA) mutations requires that the proportion of mutant mtDNA species diagnosed in the biopsied cells of the embryo (blastomeres) be an[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Girardet A ; Fernandez C ; Hamamah S ; Tuffery S ; Claustres M | 2005Communication n° 553 Preimplantation genetic diagnosis (PGD) allows couples at risk of conceiving a genetically abnormal fetus to avoid the birth of an affected child through the selection and transfer to the mother's uterus of unaffected embryo[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vilchez J ; Azorin I ; Mayordomo F ; Sevilla T ; Bataller L ; Garcés M ; Perpina L | 2005Communication n° 541 Background / objective: The scapuloperoneal myopathies (SPM) are an heterogeneous group of muscle diseases, including the Emery-Dreifuss Syndrome (EDS) and others muscular dystrophies. The aim of this study is to determine t[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Tüzün E ; Saini S ; Yang H ; Higgs S ; Christadoss P | 2005Communication n° 5 Introduction: The classical complement pathway (CP) is involved in the induction of experimental autoimmune myasthenia gravis (EAMG) induced by acetylcholine receptor (AChR) immunization. Objective: To delineate the significan[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Teissié J ; Golzio M ; Franchi R | 2005Communication n° 308. Expression of fluorescent proteins (GFP, DsRed) after gene transfer can be conveniently followed in living animals (mouse) directly by fluorescence video imaging. We routinely used this approach for a relative quantitative [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Shafeghati Y ; Martin GM | 2005Communication n° 3 Abstract Two Iranian cases with very rare progeroid syndromes are reported. The first was a 24-year-old young girl. She was healthy till her 13th birthday. From that time she has been suffering gradually from a progressive gen[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Kuntzer T ; Marin C ; Pahnke J ; Benhattar J ; Janzer RC | 2005Communication n° 265 Muscle biopsy in polymyositis patients is not considered to be of prognostic help. So far, it is not able to predict the response to steroids, nor does it reflect the clinical outcome. Previous findings indicate that in a nu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Adamy C ; Arimura T ; Candiani G ; Decostre V ; Varnous S ; Massart C ; Pecker F ; Bonne G | 2005Communication n° 279 Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early joint contractures, slowly progressive muscular wasting and weakness, and by adult age, development of cardiac conduction defects, arrhythmias, left ventricu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Taratuto AL ; Saccoliti M ; Lubieniecki F ; Panigazzi A ; Castano JG ; Romero NB | 2005Communication n° 50. Congenital myopathies are characterized by the presence of distinctive structural and histochemical diagnostic features with type 1 predominance and/or hypotrophy but diagnosis may be inconclusive at muscle biopsy during ear[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Herlicoviez D ; Rolland M ; Chapon F ; Berthelin C ; Fromager G ; Dress D ; Viader F | 2005Communication n° 48. Muscle-specific phosphorylase b kinase (PbK) deficiency is an unusual form of glycogen storage disorder. PbK converts the inactive form of glycogen phosphorylase into its active form. Most patients are male, complain of exer[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bassez G ; Andreux F ; Laforet P ; Radvanyi H ; Jeanpierre M ; Eymard B | 2005Communication n° 538 Introduction: myotonic dystrophy type 1 (DM1) typically involves distal limb muscles at onset whereas a proximal muscle involvement is more suggestive of myotonic dystrophy type 2 (DM2). In DM1, proximal musculature, includi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bassaglia Y ; Cebrian J ; Covan S ; Foucrier J | 2005Communication n° 490. Proteasomes are the major actors of non-lysosomal cytoplasmic protein degradation. In particular, these large protein complexes (about 2500 kDa) are considered to be responsible for muscular degradation during skeletal musc[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Héron-Milhavet L ; Franckhauser C ; Rochat A ; Hemmings B ; Fernandez A ; Lamb N | 2005Communication n° 639. PKB/Akt kinases are involved in signaling downstream of growth factor receptor tyrosine kinases and phosphatidylinositol 3-kinase. Akt1 and Akt2 are the two principle Akt isoforms expressed in all tissues. We have used smal[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Le Bihan M ; Bigot A ; Butler-Browne GS ; Mouly V ; Furling D ; Coulton G | 2005Communication n° 571. Introduction : The proliferation of human satellite cells in vitro is limited by replicative senescence. For example, satellite cells isolated from newborns can achieve 55-60 divisions in vitro, while cells isolated from ad[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Roccella M ; Parisi L ; Canziani T | 2005Communication n° 111 Purpose : Dystrophinopathy is the first cause of myopathy in children, and Duchenne muscular dystrophy (DMD) is one of the most severe and frequent forms of this disease. In the last years, even if medical cures allowed thes[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Haddad H ; Richard P ; Gaudon K ; Ioos C ; Barois A ; Boespflug-Tanguy O ; Mayer M ; Bauche S ; Koenig J ; Hantaï D ; Eymard B | 2005Communication n° 699 Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of hereditary disorders due to defects in the neuromuscular transmission. According to the site of the primary defect, these syndromes are classifie[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Martinez-Martinez P ; Losen M ; Van de Waarenburg M ; Machiels BM | 2005Communication n° 569 The primary autoantigen in myasthenia gravis, the acetylcholine receptor (AChR), is clustered and anchored in the postsynaptic membrane of the NMJ by rapsyn. Previously, we found that the overexpression of rapsyn by in vivo [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Heron D ; Cohen D ; Plaza M ; Angeard N ; Lanthier O ; Eymard B ; Guile JM | 2005Communication n° 436 This study investigated reading and spelling difficulties in subjects with the juvenile form of myotonic dystrophy (MD). Twenty three consecutive patients with juvenile MD who were referred to a special clinic were assessed [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bouchentouf M ; Benabdallah BF ; Dumont M ; Tremblay J | 2005Communication n° 39. BACKGROUND : The quantification of the graft success is a key element to evaluate the efficiency of cellular therapies for several pathologies such as Duchenne muscular dystrophy. This study describes a novel approach to eva[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Boerio D ; Hogrel JY ; Creange A ; Lefaucheur JP | 2005Communication n° 231. INTRODUCTION : Following an action potential, peripheral nerve axons become first totally unexcitable: absolute refractory period (ARP) then partially unexcitable: relative refractory period (RRP). OBJECTIVE : To compare va[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Athanasopoulos T ; Foster H ; Graham I ; Hill V ; Perez N ; Vulin A ; Fabb SA ; Garcia L ; Danos O ; Dickson G | 2005Communication n° 635 Introduction : Duchenne muscular dystrophy (DMD) is a lethal genetic muscle disorder affecting 1:3500 male individuals, caused by recessive mutations in the dystrophin gene. The size of the gene (2.4Mb) and mRNA (14kb) in ad[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Losen M ; Martinez-Martinez P ; Machiels BM | 2005Communication n° 423 Various mutants of the human anti-human-acetylcholine receptor (AChR) antibody IgG1-637 were produced and characterised. A monovalent version of this AChR antibody was created by deleting four amino acids in the CDR3 of one [...]Multimédia
Conférence de consensus, modalités, indications, limites de la rééducation dans les pathologies neuromusculaires non acquises (à l'exclusion du drainage bronchique et de la ventilation mécanique) (26-27 Septembre 2001; Evry) ; ANAES | 2005Cinq ans après la publication de ces recommandations, un Cd-Rom intitulé « Rééducation dans les maladies neuromusculaires, en pratique » a été réalisé pour re-situer ces recommandations dans le contexte de la pratique quotidienne. Comment ? En e[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Scamps F ; Hilaire C ; Al-Jumaily M ; Inquimbert P ; Valmier J | 2005Communication n° 47 Unsuccessful regeneration of sensory neurons following nerve injury leads not only to ataxia but is also associated to persistent spontaneous electrical activity that plays an important role in the occurrence and maintenance [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Arbogast S ; Reid MB | 2005Communication n° 309 Under physiological conditions, muscle fibers continually produce reactive oxygen species (ROS) and nitric oxide (NO). Intracellular oxidant activity is increased by fatiguing exercise, inflammatory mediators, and heat stres[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Rana-Poussine V ; L'Honoré A ; Héron-Milhavet L ; Franckhauser C ; Lamb N ; Fernandez A | 2005Communication n° 645. Skeletal muscle comprises two principal cell forms, myofibres executing muscle contraction and satellite cells, responsible for muscle growth and regeneration. Three stages can be identified in muscle development : muscle f[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Melms AR ; Luther C ; Poeschel S ; Varga M ; Brucklacher V ; Melms A ; Tolosa E | 2005Communication n° 576 Thymus-derived CD4+CD25hi T regulatory cells play a decisive role in the generation and maintenance of peripheral tolerance. These cells are naturally hyporesponsive in vitro and can inhibit the proliferation of co-cultured [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Gorni K ; Zhao P ; Pasquali L ; Hoffman E | 2005Communication n° 164. Introduction : The absence of dystrophin protein leads to different phenotypes in different species, despite complete loss of dystrophin in all muscles. Patients affected by Duchenne Muscular Dystrophy show chronic degenera[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mairet S ; Maïsetti O ; Portero P | 2005Communication n° 600. Introduction. Muscular architecture, characterized by fascicle length (FL), pennation angle (Pa), and muscle thickness (MT), can be studied in vivo by using ultrasonography. The parameters are determinant for muscle force e[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pitard B ; Bossard F | 2005Communication n° 94 A variety of muscular disorders including Duchenne muscular dystrophy are potentially amenable to a treatment modality in which a therapeutic nucleic acids is directly delivered to the muscle. We recently reported that nonion[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laforet P ; Escolar D ; Pestronk A ; Jaffe K ; Carter J ; Berger K ; Rapoport D ; Skrinar AM ; Doppler V ; Eymard B ; Wokke J | 2005Communication n° 470. Background : Pompe disease is a rare, autosomal recessive, metabolic muscle disease caused by a deficiency of lysosomal acid ?-glucosidase (GAA), an enzyme that degrades glycogen. There is a broad spectrum of disease rangin[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bonnieu A ; Hamade A ; Deries M ; Bally-Cuif L ; Begemann G ; Genet C ; Sabatier F ; Cousin X | 2005Communication n° 226. Retinoic acid (RA) is involved in the control of a variety of differentiation processes. In vitro experiments have clearly shown that RA blocks myoblast proliferation and induces their differentiation. We are studying RA fu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Haddad H ; Leturcq F ; Romero NB ; Caizergues D ; Benveniste O ; Veres G ; Chaouch M ; Kaplan JC ; Herson S ; Urtizberea JA | 2005Communication n° 698 Background : Limb girdle muscular dystrophy type 2C (LGMD 2C) is a rare autosomal recessive muscular disorder caused by mutations in the gamma sarcoglycan (?-SG) gene. Patients with LGMD 2C frequently present with proximal a[...]Article
Accès au résumé PubMed / to PubMed abstractArticle
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Allamand V ; Richard P ; Desjardin D ; Ferreiro A ; Gartioux C ; Pellegrini N ; Urtizberea JA ; Guicheney P | 2005Communication n° 607 Mutations in the coding sequence of the SEPN1 gene encoding the selenoprotein N (SelN) are responsible for Rigid Spine Muscular Dystrophy (RSMD1), multiminicore disease (MmD) and desmin-related myopathy with Mallory Body-lik[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Coté J ; Tadesse H ; Paquette B | 2005Communication n° 6 Autosomal recessive spinal muscular atrophy (SMA) is a disease that is amongst the leading genetic cause of infants death. SMA is caused by disruption of the "survival of motor neurons" gene (Smn1). SMN plays an essential role[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vaillend C ; Rosenvald Y ; Fort P ; Candelario A ; Mornet D ; Guégan M ; Martinez-Rojas D ; Rendon A ; Nudel U ; Yaffe D ; Laroche S | 2005Communication n° 620 Mutations affecting Dp71, major product of the dystrophin gene in the brain, are thought to be responsible for the most severe cases of mental retardation in DMD. To investigate this hypothesis, we evaluated the biochemical [...]Article
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Goutebroze L ; Cifuentes-Diaz C ; Irinopoulou T ; Carnaud M ; Giovannini M ; Girault JA | 2005Communication n° 496. Myelination allows the fast propagation of action potentials at a low energetic cost. It provides an insulating myelin sheath, regularly interrupted at the nodes of Ranvier where are concentrated voltage-gated Na+ channels [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Carré-Pierrat M ; Chambonnier L ; Ségalat L | 2005Communication n° 56. Our group investigates the molecular mechanisms of Duchenne Muscular Dystrophy (DMD) in the nematode Caenorhabditis elegans and in mdx-5Cv mice. In the years 2002 and 2003, we performed a random screen for compounds able to [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Charnet P ; Rousset M ; Kajava A ; Cens T | 2005Communication n° 185. Voltage-gated calcium channels are highly selective for divalent cations. The locus of this selectivity has been ascribed to a ring of negatively charged glutamate (the EEEE locus) highly conserved among high-voltage activa[...]