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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Repele A ; Rossi C ; Gastaldello A ; Al-Musawi S ; Stickland N ; Campanella M | AFM-TELETHON | 2011Cell therapy represents a valid tool for tissue replacement, in particular in the contest of muscle dystrophies or structural defects. According to recent studies, satellite cells (SCs) seem to be divided into two subpopulations: one of committe[...]Article
From The Gene Therapy Center, The Center for Vaccines and Immunity, and the Department of Radiology at Nationwide Children's Hospital and the Powell Gene Therapy Center at the University of FloridaGene replacement is a therapeutic strategy suita[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Zupan A | AFM-TELETHON | 2011INTRODUCTION Swimming and other kinds of water exercise are highly suitable forms of recreation for people with any type of physical disability. The physical properties of water facilitate movement and for some people water represents the only e[...]Article
Joubert R ; Joubert R ; Hammer C ; Guerchet N ; Tanniou G ; Poulard K ; Daniele N ; Buj Bello A | AFM-TELETHON | 2011Centronuclear Myopathies are a group of muscular disorders characterized by the presence of abnormally large nuclei centrally localized within hypotrophic myofibres. Amongst this family of diseases, myotubular myopathy (XLMTM), the most severe c[...]Publication AFM
Article
AFM-TELETHON 2011The Quebec/French DM network was created in 2005 to evaluate RNA-based gene therapy for DM1. We have characterized a mouse model of DM1 carrying 1200 CTG repeats (DMSXL mice) and validated a standardized protocol used for preclinical therapeutic[...]Article
AFM-TELETHON 2011RNA-modulating therapeutics such as antisense oligonucleotides (AONs) provide an innovative tool for targeted modulation of gene expression and/or to correct mutated mRNA causing life threatening disorders. An increasing number of studies show t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Ledoux I ; Behin A ; Stojkovic T ; Laforet P | AFM-TELETHON | 2011The Grip Test was created to develop a standardized non-ischemic forearm-exercise test for a safe screening of patients with exercise intolerance. In only one session, the maximum grip strength, the fatigue resistance and the muscle metabolism d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guiraud-Dogan C ; Hamroun D ; Beroud C ; Eymard B ; Bassez G | AFM-TELETHON | 2011Myotonic dystrophy (DM) is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. Such variability together with multisystemic involvement creates particular challenges for both clinical management and design of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sirvent P ; Ennequin G ; Gerbaix M ; Guillet C ; Masgrau A ; Courteix D ; Metz L | AFM-TELETHON | 2011Neuregulin was initially described as a neurotrophic factor involved in the formation of the neuromuscular junction in skeletal muscle. However, in recent years, neuregulin has been reported to be a myokine that exerts relevant effects on the re[...]Article
Leroy B ; Ansseau E ; Pire E ; Faille J ; Leclercq T ; Charron S ; Vanderplanck C ; Wauters A ; Turky A ; Laoudj-Chenivesse D ; Coppée F ; Wattiez R ; Belayew A | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions within the D4Z4 repeat array in 4q35. We have identified the DUX4 double homeobox gene within each D4Z4 unit (1). It encodes a transcription factor that is expressed in FSHD bu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nguyen K ; Walrafen P ; Bernard R ; Attarian S ; Chaix C ; Vovan C ; Renard E ; Pouget J ; Vannier A ; Bensimon A | AFM-TELETHON | 2011The genetic modifications associated with facioscapulohumeral dystrophy (FSHD), one of the most common hereditary muscular disorders are complex, including mainly the contraction of a D4Z4 repeat array at the 4q35 subtelomeric region together wi[...]Article
Amirouche A ; Amirouche A ; Bélanger G ; Tadesse H ; Miura P ; Coriati A ; Lunde J ; Coté J | AFM-TELETHON | 2011DMD is caused by mutations/deletions in the X-linked dystrophin gene. Several studies have shown that the dystrophin homologue, utrophin, can functionally compensate for the lack of dystrophin in muscle when expressed at appropriate levels and a[...]Article
AFM-TELETHON 2011Embryonic stem (ES) cells differentiate into multiple lineages during in vitro embryoid body (EB) formation. This makes the ES/EB system a powerful tool to study early embryonic developmental pathways and to generate specific cell populations fo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Leonardis L ; de Greef J ; Lemmers R | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is linked in more than 95% of cases to D4Z4 repeat contraction on chromosome 4q35 (FSHD1). In patients with a typical clinical presentation but without D4Z4 repeat deletions, loss of DNA methylation [...]Article
The plasticity of Smooth Muscle Cells (SMCs) is a hallmark of these muscular type. Under exogenous stimulation, SMCs trigger their dedifferentiation and conduct to their proliferation. Bone Morphogenetic Protein (BMP) pathway was shown to contro[...]Article
The RNA-binding protein STAUFEN1 is increased in DM1 skeletal muscle and regulates PRE-MRNA splicing
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ravel Chapuis A ; Bélanger G ; Yadava R ; Mahadevan M ; Desgroseillers L ; Coté J ; Jasmin B | AFM-TELETHON | 2011Myotonic Dystrophy (DM1) is caused by an expansion of CTG repeats in the 3' untranslated region (3'UTR) of DMPK mRNA. The expanded mRNA aggregates in the nucleus and becomes toxic to cells by sequestering and/or misregulating RNA-binding protein[...]Article
AFM-TELETHON 2011Inhibition of signalling via the activin receptor IIB (ActRIIB) is considered as a therapeutic strategy for Duchenne muscular dystrophy. However, the role of ActRIIB signalling on muscle function and metabolism is not entirely understood. Myosta[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rizzato V ; Fappi A ; Xavier G ; Godoy T ; Bonten E ; van de Vlekkert D ; Chadi G ; d'Azzo A ; Zanoteli E | AFM-TELETHON | 2011Lysosomal neuraminidase (NEU1) is the glycosidase responsible for the catabolism of sialic acid-containing glycoconjugates. A deficiency of this enzyme is associated with the lysosomal storage disease sialidosis. Children affected by this diseas[...]Article
AFM-TELETHON 2011Progressive muscle loss is a common feature of different genetic and acquired muscle diseases for which no pharmacological treatment is presently available. Promoting muscle growth or blocking catabolic pathways are possible therapeutic approach[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hébert L ; Puymirat J ; Saulnier J | AFM-TELETHON | 2011Introduction. In Myotonic Dystrophy type 1 (DM1), few consensuses have emerged with regard to muscle strength impairments, and level of function. Distal weakness first appears and is usually identified after 9 to 10 years' duration of the illnes[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Prevel N ; Allenbach Y ; Herson S ; Klatzmann D ; Benveniste O | AFM-TELETHON | 2011Introduction:Polymyositis (PM) and Inclusion body myositis (IBM) are inflammatory myopathies caraterized by invaded muscle fibers by autoreactive CD8+ T cells. Immunosupressive drugs used in PM are not always efficacious and have no effect on IB[...]Article
Objective: Dysferlin is a transmembrane protein implicated in surface membrane repair of muscle cells. Mutations in dysferlin cause the progressive muscular dystrophies Miyoshi Myopathy, Limb Girdle Muscular Dystrophy 2B, and distal anterior com[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Panse R ; Cufi P ; Weiss J ; Dragin-Mamavi N ; Berrih-Aknin S | AFM-TELETHON | 2011Myasthenia Gravis (MG) is mainly due to autoantibodies against the nicotinic acetylcholine receptor (AChR) at the postsynaptic membrane that cause loss of functional AChR and disturb neuromuscular transmission. The thymus is clearly involved in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schepens I ; Poliakova K ; Borradori L | AFM-TELETHON | 2011The dystonin gene encodes several tissue selective BPAG1 protein isoforms, issued from alternative splicing. In skeletal muscle, the main isoform is BPAG1-b, a 830kDa protein that presents the hallmarks of both spectrin and plakin families. The [...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)