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Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
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Documents disponibles provenant de ce congrès (565)
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Article
Laminopathies include a wide range of heterogeneous diseases involving different tissues, ranging from isolated peripheral neuropathies to systemic, premature aging diseases as Hutchinson-Gilford Progeria. Since the first involvement of the LMNA[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernard D ; Prasanth KV ; Sedel F ; Triller A ; Spector DL ; Bessis A | 2008During physiological development of spinal cord, half of the motoneurons die few days after their generation. It has been shown that motoneurons are not committed to death but rather acquire the competence to die upon a transient microglial TNF?[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pouget J | 2008Amyotrophic Lateral Sclerosis (ALS) remains an intriguing neurodegenerative disorder and we do net yet understood its pathogenesis. The discovery of the Cu, Zn superoxyde dismutase gene (SOD1) mutation in 20% of familial cases dramatically modif[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Volpi L ; Calsolaro V ; Falorni M ; Siciliano G | 2008Limb girdle muscular dystrophies (LGMD) represent a group of muscle diseases characterized by genetic and clinical heterogeneity. At the moment, seven autosomal dominant and 12 autosomal recessive loci have been identified. We characterized the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Buyse G ; Van der Mieren G ; Erb M ; D'Hooge J ; Herijgers P ; Verbeken E ; Jara A ; Van Den Bergh A ; Mertens L ; Courdier-Fruh I ; Barzaghi P ; Meier T | 2008Background - Duchenne muscular dystrophy (DMD) is a severe and still incurable disease, with heart failure as a major cause of death. The identification of a disease-modifying therapy may require early-initiated and long-term administration, but[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bendahhou S ; Sacconi S ; Arrighi N ; Larroque MM ; Chapon F ; Vicart S ; Sternberg D ; Fontaine B ; Barhanin J ; Desnuelle C | 2008Andersen’s syndrome (AS) is a rare disorder that manifests with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness is a feature of this disease that has been reported in two-thirds of the patients. The KC[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Delbono O ; Xia J ; Treves S ; Wang ZM ; Jimenez-Moreno R ; Paine A ; Messi LM ; Nishi M ; Briguet A ; Schaerer F ; Takeshima H ; Zorzato F | 2008Skeletal muscles from young adult mice containing homozygous deletion of the gene for the sarcoplasmic reticulum protein JP-45 were studied and compared to age-matched wild-type litter mates. Analysis of spontaneous motor activity with a running[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Côte C ; Bassem H ; Hébert L ; Janier M ; Puymirat J | 2008The aim of the study was to evaluate if a typical pattern of muscular involvement could be identified, and if correlation exists between severity of MRI anomalies and clinical findings. MRI findings were edema and fatty degeneration, ranging fro[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lesault PF ; Gherardi K ; Tremblay P2 ; Chazaud B | 2008Main limitations to efficient cell therapy in skeletal muscle include massive cell death, limited diffusion and poor fusion of the transplanted cells. Numerous attempts of myogenic cell transplantation in skeletal muscle have been performed in b[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Couette M ; Boissé MF ; Gherardi RK ; Brugières P ; Chevalier X ; Cesaro P ; Maison P ; Bachoud-Lévi AC ; Authier FJ | 2008Macrophagic myofasciitis (MMF) is an emerging condition, characterized by specific muscle lesions assessing long-term persistence of aluminum hydroxide within macrophages at the site of previous immunization. Affected patients mainly complain of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Le Panse R ; Cizeron-Clairac G ; Ruhlmann N ; Bismuth J ; Truffault F ; Berrih-Aknin S | 2008Early-onset Myasthenia Gravis (MG) with anti-AChR antibodies is commonly associated with thymic hyperplasia, characterized by the presence of germinal centers (GC) containing B cells producing pathogenic antibodies. We demonstrate a specific and[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bartoli M ; Gicquel E ; Barrault L ; Soheili T ; Malissen M ; Malissen B ; Udd B ; Danos O ; Richard I | 2008Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human ?-sarcoglycan gene (SGCA). We introduced in mice the most prevalent LGMD2D mutation, R77C. Unexpectedly, we ob[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Worman HJ | 2008Cardiac disease is a prominent feature of Emery-Dreifuss muscular dystrophy (EDMD), with the initial presentation being atrioventricular conduction block followed by dilated cardiomyopathy. Autosomal dominant EDMD and related cardiomyopathies ar[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rose MR | 2008There are several motivations for the increasing interest in assessing quality of life (QoL) in chronic long term conditions such as neuromuscular disease (NMD). Many NMDs are not treatable, and even those that are may have persistent morbidity [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mezghrani A ; Barbara G ; Monteil A ; Lory P ; Nargeot J | 2008Aminoglycycosides compounds can read-through to premature termination codon mutations and appear an interesting therapeutic approach for some genetic diseases. Indeed, clinical studies have been initiated for cystic fibrosis and muscular dystrop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vandebrouck A ; Domazetovska A ; Cooper ST ; Ilkovski B ; North KN | 2008Protein aggregates or rods are the primary pathological feature in nemaline myopathy. Mutations in the gene encoding skeletal muscle ?-actin (ACTA1) are responsible for about 20% of nemaline myopathy cases associated with cytoplasmic rods, as we[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Messina S ; Mazzeo A ; Bitto A ; Aguennouz M ; Migliorato A ; De Pasquale MG ; Squadrito F ; Vita G | 2008Soy isoflavones have been reported to have antioxidant bioactivities, scavenging free radicals and increasing antioxidant protein expression, and also to inhibit the transcription factor NF-kB. We showed in previous studies that the inhibition o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; della Gaspera B ; Armand AS ; Lécolle S ; Charbonnier F ; Chanoine C | 2008The myocyte enhancer factor 2 (MEF2) family of MADS (MCMI, agamous, deficiens, serum response factor)-box transcription factors has four members in vertebrates, MEF2A, -B, -C and –D. The four MEF2 genes are expressed in complex and overlapping p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cabaniols JP ; Smith J ; Galetto R ; Gouble A ; Perez C ; Epinat JC ; Arnould S ; Duclert A ; Duchateau P ; Pâques F | 2008Most current gene therapy strategies for inherited diseases are based on a complementation approach: a virus-borne functional copy of the mutant gene is randomly inserted into the genome, resulting in a phenotypic correction of the genetic defec[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hibaoui Y ; Roulet E | 2008Oxidative stress-induced mitochondrial dysfunction has been shown to play a crucial role in the pathogenesis of a wide range of diseases including muscle disorders. Protecting mitochondrial function, therefore, is vital for cells to survive. In [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lecourt S ; Marolleau JP ; Fromigué O ; Vauchez K ; Ternaux B ; Lacassagne MN ; Robert I ; Praud C ; Andriamanalijaona R ; Boumediene K ; Chereau F ; Marie P ; Larghero J ; Fiszman M ; Vilquin JT | 2008Purpose: The comprehension of the human skeletal muscle development, homeostasis and physiopathology, and the set up of new therapeutic tools, mandate the cellular investigation of skeletal muscle compartments. In situ, we assessed the phenotype[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nury D ; Barbry P | 2008Genetic cardiomyopathies are predominant among rare diseases. They often originate from mutations in early cardiac transcription factors. Human Embryonic stem (HES) cells represent a key developmental model which recapitulate early cardiogenesis[...]Article
Modification of proteotoxicity associated to neuromuscular diseases : genetic analysis in C. elegans
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pasco M ; Catoire H ; Tourette C ; Parker A ; Néri C | 2008The goal of our study is to identify signalling pathways and networks that may modify proteotoxicity associated to neuromuscular diseases. The rationale of our study is that genetic/biological modifiers of proteotoxicity may constitue a useful s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Spitali P ; Fabris M ; Falzarano S ; Sabatelli P ; Bovolenta M ; Neri M ; Martoni E ; Tuffery-Giraud S ; Claustres M ; Cuisset J ; Gualandi F ; Rimessi P ; Ferlini A | 2008Exon skipping by antisense oligonucleotides (AONs) represents a promising tool successfully used for reframing dystrophin as demonstrated in a recent pilot trial in DMD patients. Since all the effort has been focused on favourable exons skipping[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laporte J ; AlQusairi J ; Boehm J ; Buj Bello A ; Hnia K ; Jamet T ; Kretz C ; Nicot AS ; Tosch V ; Toussaint A ; Mandel JL | 2008Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal centralisation of nuclei in muscle fibres, which does not appear secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy, XLC[...]