Détail du congrès:
Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
Commentaire :
AFM
|
Documents disponibles provenant de ce congrès (478)
trié(s) par (Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Shafey D ; Liu H ; Bowerman M ; Kothary R | 2008Spinal muscular atrophy (SMA) is the most common genetic disease resulting in infant mortality. SMA manifests itself due to a severe loss of ?-motor neurons and is caused by mutations or deletions of the ubiquitously expressed survival motor neu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martinez Perea MDC ; Liste H ; Ruggiero M ; Andrada L ; Canaveris G | 2008INTRODUCTION: The physicians need to be aware of the NMD and physiological flight conditions. The primary difference between the aircraft and ground is the barometric pressure reduced. Although most healthy travelers can compensate for this hypo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Labarre-Vila A ; Mezin P ; Monnier N ; Vergnaud S ; Baguet JP ; Wuyam B ; Chabre O ; Toussaint B ; Lunardi J | 2008We describe the case of a young algerian patient, now 27 years old, whose parents are cousins and one of his 5 brothers died suddenly during an effort at the age of 18 years. From age of 7 years, he complains of muscle fatigability, nausea and o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Giannesini B ; Izquierdo M ; Le Fur Y ; Cozzone PJ ; Fingerle J ; Himber J ; Künnecke B ; Von Kienlin M ; Bendahan D | 2008Introduction. Magnetic resonance (MR) techniques have proven their ability to investigate skeletal muscle function in situ. However, in animal research, the benefit provided by MR techniques in terms of non-invasiveness is lost because of the ut[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hnia K ; Gayraud G ; Lacampagne A ; Koechlin C ; Hugon G ; Rivier F ; de la Porte S ; Mornet D ; Matecki S | 2008L-Arginine was proposed as a potential pharmacological tool in Duchenne muscular dystrophy (DMD), a progressive-muscle wasting disease due to mutations in the dystrophin gene. Despite the beneficial effect on L-arginine on muscle weakness and fo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dimitrov A ; Quesnoit M ; Moutel S ; Cantaloube I ; Poüs C ; Pérez F | 2008Microtubules are highly dynamic tubulin polymers essential for intracellular organization and cell division. They display a dynamic instability, alternating phases of growth and shrinkage separated by catastrophe and rescue transitions. Tubulin [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lahoute C ; Sotiropoulos A ; Favier M ; Guillet-Deniau I ; Schmitt A ; Metzger D ; Tuil D ; Daegelen D | 2008The Serum Response Factor (SRF) is a crucial transcription factor for muscle-specific gene expression. We previously demonstrated that SRF is needed for postnatal skeletal muscle growth. To further investigate the role of SRF in adult skeletal m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makri S ; Vilma-Lotta L ; Terki N ; Laing NG ; Wallgren-Pettersson C | 2008Nemaline myopathy (NM) is a rare congenital myopathy characterized by muscle weakness and the presence of nemaline (rod) bodies in the muscle fibers. NM is a genetically heterogeneous condition of which rigid spine syndrome is a rare feature. He[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Noguiez-Hellin P | 2008One way to design drugs for neuromuscular diseases goes through gene therapy products from Biodrugs list. Regarding the regulatory legislation, gene therapy products are considered as pharmaceutical products and their manufacturing requires comp[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nejjari M ; Janier M ; Gourdon G ; Puymirat J ; Hiba B | 2008Introduction: Mouse models are now widely used for drug discovery and muscle disorder studies (e.g. myopathy). Therefore a quantitative method to determine muscle volume in vivo will help us for the follow-up of the muscle disease. In the presen[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Roques C ; Bouchemal K ; Salmon A ; Fattal E ; Fromes Y | 2008Gene transfer is an interesting therapeutic approach for inherited muscular dystrophies with no curative treatment currently available. Nevertheless, DNA does not freely cross the membranes as it is a hydrophilic, negatively charge macromolecule[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arnold AS ; Handschin C | 2008Spinal muscular atrophy (SMA) is characterized by a mutation in the survival motor neuron (SMN) gene, leading to a deficit of expression of the SMN protein, a ubiquitously expressed protein which exact function is unknown. It results in motoneur[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hutchison C ; Salpingidou G ; Markiewicz E | 2008Emerin is a type II integral membrane protein of the inner nuclear membrane and was the first nuclear membrane protein to be implicated in muscular dystrophy. Mutations in the gene STA, which encodes emerin, underlie the X-linked form of Emery D[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aebischer J ; Moumen A ; Pettmann B ; Raoul C | 2008Death pathways restricted to specific neuronal classes could explain the selectivity of neuronal loss in neurodegenerative diseases, such as the loss of motoneurons in amyothrophic lateral sclerosis (ALS). We previously showed that Fas-induced d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pedemonte M ; D'Apice MR ; Ottonello C ; Conte G ; Mattioli G ; Scapolan S ; Novelli G ; Minetti C | 2008X-linked myotubular myopathy is a rare disease, characterised by neonatal hypotonia, muscle weakness and respiratory distress in affected males, leading often to early death. It is caused by mutations in the MTM1gene, localised on the long arm o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Raheem O ; Huovinen S ; Suominen T ; Haapasalo H ; Udd B | 2008Introduction The ATPase properties of different muscle fiber types is widely used for histochemical diagnostic purposes. The ATPase staining method has a central position in most routine muscle biopsy diagnostic laboratories. However, the method[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nouioua S ; Bernard R ; Hamadouche T ; Vallat JM ; Tazir M | 2008Autosomal recessive forms of Charcot-Marie –Tooth disease are clinically and genetically heterogeneous. One locus, termed CMT4F, showing similarities to Déjerine- Sottas syndrome, was mapped to 19q13.3 in a large consanguineous Lebanese family a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Douillard-Guilloux G ; Batista L ; Raben N ; Caillaud C ; Richard E | 2008Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the lysosomal acid alpha-glucosidase (GAA) gene. It is characterized by glycogen accumulation, especially in skeletal muscle and he[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lattanzi G ; Camozzi D ; Schena E ; Columbaro M ; Bonne G ; Wehnert M ; Squarzoni S | 2008Laminopathies are a heterogeneous group of human disorders linked to mutations in the LMNA gene encoding A type lamins or in genes encoding lamin A-associated proteins. Numerous mutations of the LMNA gene cause overlapping clinical phenotypes, s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cadot B ; Gache V ; Gomes E | 2008Nuclear movement during myofiber formation The formation of a myofiber requires the fusion of myoblasts to form a myotube which then differentiate into a mature myofiber. During all these steps, the position of the nuclei changes: during the for[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gotic I ; Naetar N ; Biadasiewicz K ; Stewart C ; Foisner R ; Perutz MF | 2008Lamina-Associated Polypeptide 2 (LAP2) alpha belongs to a family of nucleoskeletal proteins that bind to chromatin and lamins. While the majority of lamins forms a scaffolding network at the nuclear envelope supporting nuclear architecture, A-ty[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jeannet PY ; Spehrs-Ciaffi V ; Aminian K ; Paraschiv-Ionescu A | 2008While new therapies for neuromuscular disorders are being investigated, it is also important to develop new tools to quantify the potential effects of such therapies. Devices recording the patient’s daily physical activity in their natural envir[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hiba B ; Richard N ; Hébert L ; Vial C ; Saulnier J ; Nejjari M ; Remec JF ; Côte C ; Bouhour F ; Puymirat J ; Janier M | 2008An objective assessment of disease progression and muscle damage is required to prove therapies for muscle degeneration. In this context, we propose an objective MRI-based method for the assessment of the Tibias Anterior (TA) muscle degeneration[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stefanovic S ; Abboud N ; Desilets S | 2008The embryonic stem cell (ESC) specific protein Oct-4, is one of the earliest transcription factor in the embryo. Together with Sox2 and Nanog, Oct-4 cooperatively maintains the pluripotency of ESC through a tightly regulated transcriptional loop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Meier T ; Erb M ; Meinen S ; Barzaghi P ; Ruegg M | 2008Background: Mutations in LAMA2, the gene encoding the laminin-alpha2 chain of the extracellular matrix of muscle cells, cause a rare and severe form of congenital muscular dystrophy, called MDC1A. The disease is characterized by early onset, pro[...]