Détail du congrès:
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) ; Galy A | 2008Clinical gene therapy studies have demonstrated the immunogenicity of AAV vectors since neutralizing antibodies and cytolytic T-cell responses have been elicited against the capsid, in some patients. For further clinical development, the immunog[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Filosto M ; Tonin P ; Vattemi G ; Scarpelli M ; Baronchelli C ; Broglio L ; Tentorio M ; Padovani A ; Tomelleri G | 2008External ophthalmoplegia (EO), although often present in various neuromuscular diseases, is not usually observed in muscular dystrophies except for oculopharyngeal muscular dystrophy. We report on 37-year-old man, healthy until age 25, affected [...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Uzenot D ; Delmont E ; Attarian S ; Verschueren A ; Boucraut J ; Azulay JP ; Pouget J | 2008The objective of this study was to determine clinical, electrophysiological and biological characteristics of chronic sensory ataxia associated with anti-GD1b IgM antibodies. Anti-GD1b antibodies had been associated with acute and chronic sensor[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Behin A ; Stojkovic T ; Claeys K ; Laforet P ; Dubourg O ; Maisonobe T ; Fournier E ; Ferreiro A ; Bécane HM ; Wahbi K ; Duboc D ; Bouche P ; Stoltenburg G ; Richard P ; Udd B ; Goudeau B ; Eymard B | 2008Myofibrillar myopathies (MMF), defined by an abnormal accumulation of diverse proteins within muscle fibers, correspond to an expanding number of genetic abnormalities. Material and methods: In our department, 64 patients from 43 families presen[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Olive M | 2008Desminopathies are familial or sporadic muscle disorders due to mutations in the desmin gene. The disease is autosomal dominant in most of the cases, but not infrequently results from de novo mutations. By contrast, recessive mutations have been[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tetreault M ; Srour M ; Allyson J ; Thiffault I ; Loisel L ; Robitaille Y ; Vanasse M ; Brais B | 2008Limb girdle muscular dystrophies are a heterogeneous group of pathologies characterized by weakness and wasting of the limb girdle muscles, with typical sparing of the face. To date, seven autosomal dominant forms (LGMD1A-G) and thirteen autosom[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kazakov VM ; Rudenko D ; Kolynin V | 2008We give the description of two autosomal dominant with 4q35 linked facioscapuloperoneal muscular dystrophy families in which the patients were re-examined by V.K. after 28 -37 years and the typical changes of the pattern of muscle affections on [...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Haddad H ; Rigolet A ; Caizergues D ; Douar AM ; Millot L ; Lambert I ; Liabeuf M ; Laforet P ; Leturcq F ; Voit T ; Behin A ; Eymard B ; Carlier P ; Benveniste O ; Lemoine F ; Hogrel JY ; Rosier-Montus M ; Denèfle P ; Herson S ; Masquelier AM | 2008In late November 2006, GENETHON initiated its first gene therapy clinical trial in gamma-sarcoglycanopathy (LGMD2C), a rare autosomal recessive muscular disorder caused by mutations in the gamma-sarcoglycan gene. Patients commonly present with p[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Scutifero M ; Saccone V ; Di Gregorio MG ; Ventriglia VM ; Passamano L ; Cecio MR ; Piluso G ; Canki-Klain N ; Nigro V ; Politano L | 2008Limb-girdle muscular dystrophies (LGMD) include a broad group of genetically determined progressive muscle disorders. By definition, patients should present primary or predominant symmetrical atrophy of the pelvic and/or shoulder girdle musculat[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Monnier N ; Marty I ; Drouhin S ; Lamaria M ; Teissier N ; Thérier P ; Labarre-Vila A ; Lunardi J | 2008RYR1-related diseases include malignant hyperthermia and structural congenital myopathies among which the most common are core myopathies. Other forms such as centronuclear myopathies and myopathies with predominance of type I fibres or with dis[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stojkovic T ; Hammouda EH ; Richard P ; Laforet P ; Lopez de Munain A ; Besnier-Penisson I ; Ferrer X ; Eymard B | 2008Background : Hereditary inclusion body myopathy with Paget disease of bone (PDB) and frontotemporal dementia (FTD), or IBMPDF disease, is an autosomal dominant disorder related to mutations in Valosin-containing protein (VCP). Objective: The aim[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duboc D ; Wahbi K ; Meune C ; Eymard B ; Toutain A ; Bérard C ; Bécane HM | 2008DMD: Background Duchenne muscular dystrophy (DMD), due to lack of dystrophin, is associated with severe myocardial dysfunction. Although preliminary data support the efficacy of angiotensin-converting enzyme inhibitors on left ventricular ([...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh S ; Rathore C ; Goyal V ; Shukla G ; Jagannathan N ; Behari M | 2008Background: Muscle histopathology, in myopathies does not give any information about the biochemical changes in the muscles in disease. MR spectroscopy can throw some light on the biochemical aspect of muscle pathology, and may be of incremental[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Medja F ; Jardel C ; Nelson I ; Tchikviladzé M ; Laforet P ; Eymard B ; Lombès A | 2008Genetic alterations of the catalytic subunit of the polymerase gamma gene (POLG) have been recently involved in very diverse clinical diseases ranging from early severe Alpers-Huttenlocher syndrome to late adult diseases presenting with a very d[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Esquitin N ; Escobar RE ; Miranda A ; Escobar MG ; Coral R ; Rodriguez M ; Velasquez AC | 2008Duchenne muscular dystrophy is a neuromuscular disease genetically inherited X-linked condition with progressive physical disability. The exact functional role of the dystrophin in the brain is unknown, but their absence is associated with a dow[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pagnon-Minot A ; Malbouyres M ; Haftek-Terreau Z ; H Kim R ; Sasaki T ; Thisse C ; Thisse B ; Ingham PW ; Ruggiero F ; Le Guellec D | 2008Muscle cells are surrounded by extracellular matrix, the components of which play an important role in signalling mechanisms involved in their development. In mice, loss of collagen XV, a component of basement membranes expressed primarily in sk[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Charvet B ; Bader H ; Schulze J ; Koch M ; Ruggiero F | 2008The myotendinous junction (MTJ) provides a structural link between the muscle cell cytoskeleton and the extracellular matrix (ECM) of tendons. Lack of one of the MTJ components can alter dramatically muscle cell anchoring to the tendon. Still, i[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sigoillot S ; Lambergeon M ; Bourgeois F ; Leger J ; Legay C | 2008Congenital Myasthenic Syndromes (CMS) are inherited muscular disorders affecting neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (ColQ) underlie synaptic basal lamina associated congenital[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pedemonte M ; Ottonello G ; Scapolan S ; Doglio L ; Minetti C | 2008Neuromuscular disorders (NMD) are the most important cause of hypercapnic respiratory insufficiency in childhood and respiratory failure is the major cause of morbidity and mortality in NMD. The use of non-invasive ventilation (NIV) in NMD patie[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Clarke N ; Monnier N ; Smith R ; Waddell L ; Cooper S ; Lunardi J ; North K | 2008Background: Congenital fibre type disproportion (CFTD) is a subtype of congenital myopathy in which consistent type 1 fibre hypotrophy, compared to type 2 fibres, is the main histological abnormality. Recessive mutations in RYR1 have been associ[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martoni E ; Bovolenta M ; Grumati P ; Fabris M ; Trabanelli C ; Venturoli A ; Fini S ; Previtali S ; Mercuri E ; Messina S ; Bertini E ; Maioli M ; Sabatelli P ; Colomer J ; Marrosu G ; Bernardi P ; Bonaldo P ; Merlini L ; Ferlini A ; Gualandi F | 2008The collagen VI related myopathies include Bethlem (BM) and Ullrich (UCMD) muscular dystrophies, a pure limb girdle presentation (LGMD) and the Myosclerosis Myopathy. Despite of extensive sequencing procedures, either at genomic or cDNA level, t[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hestand MS ; Van Galen M ; Villerius MP ; van Ommen GJB ; den Dunnen JT ; 't Hoen PAC | 2008The computational identification of transcription factor binding sites is difficult due to their small size, resulting in large numbers of false positives and negatives in current approaches. Two computational methods to reduce false positives a[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boyer F ; Percebois L ; Jolly D ; Blanchard F ; Novella JL | 2008Introduction: Quality of life (QoL), health related quality of life (HRQoL) and perceived health measures are broadly explored. To understand definitely these measurements, we offer to remind you of basic concepts. Method: Pubmed search with key[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nevo Y ; Becker-Cohen M ; Yaron Y ; Pras E ; Resnik-Wolf H ; Rachmiel M ; Mitrani-Rosenbaum S | 2008A child presenting with hypotonia and muscle weakness since infancy, ambulation until twelve years of age, seizures and normal cognitive function is described. CK was elevated (650-1420 IU/L). Brain MRI showed a few abnormal T2 white matter chan[...]
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bauche S ; Lipecka J ; Vinh J ; Demay-Thomas E ; Ben Ammar A ; Chevessier F ; Faraut B ; Witzemann V ; Rossier J ; Eymard B ; Koenig J ; Hantaï D | 2008Congenital myasthenic syndromes (CMS) are rare hereditary diseases characterized by a dysfunction of the neuromuscular transmission. Our group has identified MUSK mutations (one nonsense and one missense) in a CMS patient. Study of the patient’s[...]
