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 (565)
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) ; Larue S ; Behin A ; Laforet P ; Sternberg D ; Richard P ; Beillevaire T ; Hezode M ; Rigal O ; Gaudon K ; Claeys K ; Stoltenburg G ; Hantaï D ; Eymard B | 2008Congenital myasthenic syndromes (CMS) are a group of inherited disorders in which neuromuscular transmission is impaired, with several possible clinical presentations. The diagnosis of CMS may be particularly difficult in patients with a myopath[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Morin X ; Jaouen F ; Durbec P | 2008The spatio-temporal regulation of symmetrical as opposed to asymmetric cell divisions directs the fate and location of cells in the developing CNS. In invertebrates, G-protein regulators control spindle orientation in asymmetric divisions, which[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ferreiro A | 2008Congenital myopathies are inherited disorders defined by distinct structural changes in muscle fibres. Among these cytoarchitecture changes, core lesions, consisting of localized areas of mitochondria depletion and sarcomere disorganization, def[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Theveniau-Ruissy M ; Dandonneau M ; Miquerol L | 2008TBX1, encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and cardiovascular defects including tetralogy of Fallot and common arterial trunk. Mice lacki[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Buj Bello A ; Fougerousse F ; Jamet T ; Durand M ; Kretz C ; Danos O ; Douar AM ; Montus M ; Denèfle P ; Mandel JL | 2008Myotubular myopathy (XLMTM) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the presence of small non-regenerative myofibres with frequent occurence of internalized nuclei. No specifi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Marquis J ; Trub J ; Trono D ; Schumperli D | 2008Spinal Muscular Atrophy (SMA) is caused by deletion/inactivation of the SMN1 (survival of motoneurons) gene resulting in a degeneration of ?-motoneurons. A second, nearly identical gene (SMN2) allows patients to survive into early childhood, but[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Dilek N ; Martens B ; Quinn C ; Moxley R | 2008Objective: To document the correlations between measures of muscle strength, function and QOL in DM-1. Background: Research funding agencies and Regulatory agencies are increasingly requiring clinical outcome measures that are reliable, responsi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tiret P ; Lecoq J ; Chaigneau E ; Ducros M ; Knopfel T ; Charpak S | 2008Several techniques of human functional brain imaging measure changes in blood flow parameters to localize activated cerebral regions. At present, the study of the spatio-temporal coupling between neuronal activity and associated vascular paramet[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lafoux A ; Bertrand J ; Gervier P ; Huchet-Cadiou C | 2008In duchenne’s muscular dystrophy, that is characterized by a progressive skeletal muscle fiber necrosis, the membrane-stabilizing protein dystrophin is missing, and this leads to altered total Ca2+ content in muscle fibers. This study investigat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makoukji J ; Trousson A ; Fonte C ; Grenier J ; Schumacher M ; Massaad C | 2008Glucocorticoids play a major role in the nervous system and promote myelination. Their action is mediated by the glucocorticoid receptor (GR) that recruits coactivators(CBP or p300). We investigated the role of CBP and p300 in Schwann cells. We [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ottaviani A ; Rival-Gervier S ; Boussouar A ; Forster A ; Rondier D ; Bauwens S ; Gilson E ; Magdinier F | 2008Both genetic and epigenetic alterations contribute to the Facio-Scapulo-Humeral Dystrophy (FSHD) linked to the reduction of a number of D4Z4 repeated elements at the 4q35 locus. The consequence of this rearrangement remains enigmatic but deletio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coletti D ; Berardi E ; Aulino P ; Moresi V ; Pristerà A ; Sassoon D ; Molinaro M ; Adamo S | 2008Chronic exposure to tumor necrosis factor-alpha (TNF) triggers muscle wasting reminiscent of cachexia (1), a debilitating syndrome characterized by skeletal muscle wasting (2). In addition to TNF-treated muscle we exploited tumor (C26)-bearing m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernard N ; Duplan L ; Marin P ; Raoul C ; Pettmann B | 2008Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving degeneration of the upper and lower motoneurons leading to progressive muscle atrophy. The best caracterized familial form of this disease is linked to mutations in the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Feron M ; Rouger K ; Dubreil L ; Arnaud MC ; Megeney L ; Sakanyan V ; Guevel L | 2008Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The pathology is caused by mutations in the dystrophin gene but the mechanisms linking the absence of dystrophin to the massive muscle necrosis and progr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Al-Qusairi L ; Weiss N ; Sanoudou D ; Berbey C ; Messaddeq N ; Kretz C ; Allard B ; Beggs AH ; Mandel JL ; Jacquemond V ; Laporte J ; Buj Bello A | 2008X-linked myotubular myopathy (XLMTM) is a severe congenital disease that affects the skeletal musculature leading to early postnatal death of most patients. The gene responsible for the disorder, MTM1, encodes a lipid phosphatase named myotubula[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yang X ; Mertens B ; Lehtonen E ; Vercammen L ; Bockstael O ; Chtarto A ; Levivier M ; Brotchi J ; Sarre S ; Tenenbaum L | 2008A tetracycline (tet)-inducible adeno-associated viral vector expressing human GDNF cDNA (AAV-tetON-GDNF) was administered in the striatum of rats 5 weeks after lesioning by intrastriatal 6-hydroxydopamine injection. A significant tet-dependent i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bertrand A ; Renou L ; Gueneau L ; Decostre V ; Lacene E ; Arimura T ; Malissen M ; Bonne G | 2008Lamin A and C, encoded by LMNA gene, localize at the inner face of the nuclear membrane and interact with multiple proteins and DNA. Mutations reported all along the LMNA gene are responsible for multiple diseases including Emery-Dreifuss muscul[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Simon S ; Fontaine JM ; Martin J ; Sun X ; Hoppe A ; Welsh M ; Benndorf R | 2008Three mutations (R120G, Q151X, 464?CT) in the small heat shock protein (sHsp) ?B-crystallin (?BC) have been found to cause inherited myofibrillar myopathy (Selcen and Engel, 2003; Vicart et al., 1998). ?BC forms homo-dimers, hetero-dimers with o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benedetti S ; Sacco F ; Zerbini G ; Morandi L ; Pegoraro E ; Trevisan C ; Comi G ; Ferrari M ; Previtali SC ; Pappone C | 2008Mutations in LMNA gene, encoding lamin A/C, have been associated with a high risk of sudden death. The implant of a cardioverter defibrillator (ICD) is to date the only effective intervention, but no specific guidelines are available. To define [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Iodice P ; Di Tano G ; Doria C ; Saggini A ; Saggini R | 2008Aging is characterised by a gradual decrease in muscle mass and muscle strength which contributes to a decline in physical functions, increase disability, frailty, and loss of independence. Age related loss of muscle mass is referred to as sarco[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Basse N ; Couchoux H ; Génin E ; Abbaci K ; Blaineau S ; Vala C ; Bouvier-Durand M ; Le Ravalec V ; Vidal J ; Reboud-Ravaux M ; Berthier C | 2008Inhibiting the proteasome appears as a promising therapeutic tool for the treatment of muscle pathologies, including muscle atrophy and several myopathies. We have designed new proteasome inhibitors based on the cyclic natural inhibitor TMC-95A.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Clarke NF | 2008In recent years the phenotypes and histological patterns associated with known structural myopathy genes has expanded (eg RYR1, TPM3, TPM2). Many of the less well defined diagnostic entities, such as cap disease and congenital fibre type disprop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sharma M ; Tanveer N ; Sarkar C ; Gulati G ; Kalra K ; Singh S ; Bhatia R | 2008Objectives : To elucidate the role of skin biopsy in the diagnosis of dystrophinopathies. Study design : Paired skin and muscle biopsies from 39 cases of Duchenne muscular dystrophy, 4 cases of Becker muscular dystrophy and 37 controls w[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Heemskerk H ; de Winter C ; De Kimpe S ; van Kuik-Romeijn P ; Heuvelmans N ; Platenburg G ; van Ommen GJ ; van Deutekom J ; Aartsma Rus A | 2008Antisense-mediated exon skipping is a potential treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) the disrupted DMD reading frame is restored, allowing the generation of partially functional dystrophin and [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Miles M ; Carlson CG | 2008Daily treatment of adult mdx mice with intraperitoneal injections of pyrrolidine dithiocarbamate (PDTC) substantially improved the resting membrane potential in severely dystrophic (mdx) triangularis sterni (TS) muscle fibers (Carlson et al., Ne[...]