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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
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Franco D ; Velasco E ; Martinez S ; Lyons G ; Navarro F ; Aranega A | 2008Pitx2 is a member of the bicoid family of homeodomain transcription factors that plays a relevant role in morphogenesis. Pitx2 expression has been detected in many tissues during development, including myotomes as well as in migrating myoblasts.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Eisenberg I ; Eran A ; Lidov HG ; Kang PB ; Kohane IS ; Kunkel LM | 2008The muscular disorders are a heterogeneous group of over thirty different inherited diseases characterized by muscle wasting and progressive weakness of variable distribution and severity, resulting in significant morbidity and disability. Altho[...]Article
Distribution of ribonucleoprotein complexes in cajal bodies from SMA type i-derived fibroblast cells
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Renvoisé B ; Lefebvre S | 2008Spinal Muscular Atrophy (SMA) is a common neurodegenerative disease caused by reduced levels of the Survival Motor Neuron (SMN) protein. SMN is part of a large ubiquitous protein complex that concentrates in nuclear gems/Cajal bodies (CBs) and p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Suominen T ; Bachinski L ; Raheem O ; Haapasalo H ; Kress W ; Krahe R ; Udd B | 2008Myotonic dystrophy type 2 (DM2) is caused by (CCTG)n repeat expansion in the first intron of ZNF9 gene, with the smallest reported disease causing expansion of 75 repeats. Repeat region consists of a complex motif (TG)12-26(TCTG)7-12(CCTG)3-9(G/[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blumen SC ; Israeli D ; Robin V ; Astord S ; Barkats M ; Vignaud L ; Porte F ; Achiron A ; Carasso RL ; Gurevich M ; Braverman I ; Blumen N ; Viollet L | 2008Distal hereditary motor neuronopathies form a heterogeneous group of rare inherited lower motor neuron disorders. Autosomal recessive inheritance has been reported in six subtypes (dHMN III, IV, VI, Jerash type). We studied a large inbred Israel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maqbool T ; Soler C ; Jagla T ; Jagla K | 2008Leg muscles of Drosophila display a unique vertebrate-like multi-fiber organization. They form a highly stereotyped pattern of dorsal and ventral multi-fiber muscle units, which are attached to the internal tendons in the adult leg (soler et al.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chartier A ; van der Maarel SM ; Verrips T ; Simonelig M | 2008Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease characterized by eyelid dropping, swallowing difficulties and limb weakness. Alanine expansions in the coding region of poly(A) binding protein N1 (PABPN1) resulting from GCG trin[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boulanger A ; Ramanoudjame C ; Dura JM | 2008At the neuromuscular junction (NMJ) individual muscle fibers are first contacted by many motoneurons, later in development synapse elimination and denervation followed by branch pruning occurs, so that, only one motoneuron innervates a same musc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yacoub-Youssef H ; Arnold L ; Gherardi K ; Chazaud B | 2008Macrophages are important for skeletal muscle regeneration and may exert beneficial effects on myogenic cell growth through mitogenic and anti-apoptotic activities. However, macrophages are highly versatile and may exert various, and even opposi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Berardinelli A ; Orcesi S ; Rossi M ; Motta C ; Gorni K ; Balottin U | 2008Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder due to lack of Dystrophin protein in muscle. Dystrophin is mainly concentrated in skeletal and cardiac muscle and less in smooth muscle, its deficiency causing s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ferreiro V ; Giliberto F ; Muniz Garcia N ; Francipane L ; Marcese D ; Roque M ; Frechtel G ; Szijan I | 2008The severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD) are characterized by progressive muscular degeneration. Both are caused by mutations in the dystrophin gene (Xp21.2). Two thirds of patients show intrage[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sblendorio V ; Palmieri B ; Ferrari A ; Pietrobelli A | 2008Abstract. Duchenne muscular dystrophy yields pervasive and progressive muscle mass loss. In the current measures relating to the monitoring of disease progression is relevant: 1) the type of scale used; 2) the clinical significance of the at[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Loureiro De Sousa P ; Vignaud A ; Carlier PG | 2008NMRI (Nuclear Magnetic Resonance Imaging) investigations have attempted to exploit the Blood-Oxygen-Level-Dependent (BOLD) contrast in the skeletal muscle as an estimator of physiological parameters. However, beside changes in hemoglobin saturat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Durieux AC ; Bitoun M ; Prudhon B ; Guicheney P | 2008Autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy, clinically characterized by delayed motor milestones and muscle weakness and often associated with ptosis and ophthalmoplegia. The gene responsible for AD-CNM has [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bitoun M ; Prudhon B ; Durieux AC ; Bevilacqua JA ; Romero NB ; Guicheney P | 2008The autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by delayed motor milestones, facial and muscular weakness often associated with bilateral ptosis. The typical muscle histopathology comprises central[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bevilacqua JA ; Krahn M ; Pedraza L ; Gejman R ; Gonzalez S | 2008Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin (DYSF) gene that encodes for dysferlin (MIM 603009). Dysferlinopathy manifests as two main clinical phenotypes, distal Miyoshi’s myopathy and LGM[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aouba A ; Terrier B ; Goulvestre C ; Guillevin L ; Authier FJ | 2008Muscle involvement in the setting of anti-threonyl-tRNA synthetase (anti-PL7) syndrome is usually regarded as similar to that associated with anti-Jo1 syndrome and roughly classified as polymyositis or dermatomyositis. Contrasting with this view[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Thompson O ; Kleino I ; Crimaldi L ; Gimona M ; Saksela K ; Winder S | 2008Dystroglycan is an essential component of the dystrophin glycoprotein complex of skeletal muscle (DGC), an important mediator of connections to the actin cytoskeleton and a scaffold for signalling molecules in a number of other cell types. In ad[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benard R ; Dupas B ; Tadayoni R ; Sene A ; Roux MJ ; Nudel U ; Yaffe D ; Sahel JA ; Rendon A | 2008Dp71 is the most abundant Duchenne Muscular Dystrophy (DMD) gene product expressed in the retina. This protein in the Müller glial cells (MGC) plays a role in regulating the retinal homeostasis by clustering Kir4.1 and AQP4 channels. (see poster[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Avril-Delplanque A ; Mercier S ; Daoud F ; Nusbaum P ; Leturcq F ; Kaplan JC ; Dreyfus P ; Chelly J ; Garcia L | 2008Duchenne Muscular Dystrophy (DMD) is the most severe form of dystrophinopathy, in which nul mutations in the DMD gene (mostly frameshifting deletions, and nonsense point mutations) result in the complete absence of dystrophin. A milder phenotype[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desguerre I ; Poron F ; Barbet P ; Gherardi R ; Christov C | 2008In DMD, repeated cycles of acute myofiber necrosis and regeneration progressively lead to severe terminal myofiber degeneration and extensive fibrosis. A preliminary analysis of 39 muscle biopsies from DMD patients at different ages allowed roug[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Delrée P ; Coulic V ; Collette J ; Gothot A | 2008PURPOSE :in order to easily study heart development or reconstruction, we have developed a model of ectopic (in time and location) foetal heart graft. RESULTS : In this model ,rat foetal heart (E15-E20) , is grafted in the pavilion ear of an adu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coulic V ; Delrée P ; Collette J ; Gothot A | 2008Hirschprung disease may be considered as an intestinal neuropathy with muscular dysfunction. Some hope for its treatment has appeared with cellular therapy. Aim: to test the possibility of intestinal nervous ganglia reconstruction . Material, me[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Fox D ; Ciafaloni E ; Druschel C ; Moxley R | 2008Objective : To determine the effect of age at initiation of corticosteroids on age at loss of ambulation in patients with Duchenne muscular dystrophy (DMD) Background : The hypothesis among clinicians is that earlier the initiation of corticoste[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hourde C ; Vignaud A ; Jagerschmidt C ; Butler-Browne GS ; Ferry A | 2008We have analysed the effect of physiological doses of androgens administrated after orchidectomy on the skeletal muscle of male rats, as well as the relationships between muscle performance, hypertrophy as well as the Akt/mTOR signalling pathway[...]