Détail du congrès:
Congrès: 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) (9-13 mai 2011)
Commentaire :
AFM
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Documents disponibles provenant de ce congrès (480)
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Piekuse L ; Lce B ; Bauze D ; Pronina N ; Daneberga Z ; Krumina A | AFM-TELETHON | 2011Case report - girl 4y of age had genetic consultation due to slight mental retardation, speech delay, autistic behavior, stereotypic movements and not developed fine motor skills. In blood biochemical investigation there were discovered slightly[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hubert JF ; Moore S ; Delalande O ; Chéron A ; Bennett L ; Kupski W ; El-Baba M ; Le Rumeur E ; Ascadi G | 2011Missense mutations in the dystrophin gene often lead to Becker muscular dystrophy (BMD) but genotype/phenotype correlation is difficult to establish. Amino acid substitutions even in the repeat region of dystrophin may disrupt binding capacities[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rafai MA ; Ibnkhribchia R ; Boulaajaj F ; Oumari S ; Manaf S ; El Moutawakil B ; Slassi I | AFM-TELETHON | 2011Introduction: Idiopathic orbital myositis is a rare entity, considered a sub-group of the orbit's Inflammatory pseudotumori. Cases report: Case 1: A 44 years old woman admitted for bilateral orbital pain, associated periorbital oedema and diplop[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Loureiro De Sousa P ; Vignaud A ; Caldas de Almeida Araujo E ; Carlier PG | AFM-TELETHON | 2011Background. There is a strong need of non-invasive outcome measures for monitoring the natural progression of muscle disorders, particularly at the early stages of involvement. In this context, quantitative NMR imaging might provide objective ma[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hanif M ; Pelin K ; Gronholm M ; Wallgren-Pettersson C | 2011The core objective of this study is to help elucidate the functional pathogenesis of nemaline myopathy and related disorders caused by mutations in the nebulin gene (NEB). Nebulin is a giant actin-binding protein which is located in the I-band o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fréret M ; Drouot L ; Ahmed Lecheheb S ; Dauly C ; Cosette P ; Authier FJ ; Boyer O | AFM-TELETHON | 2011Normal muscle fibers do not express detectable levels of class I major histocompatibility complex (MHC-I). In contrast, high-level expression of MHC-I is a hallmark of muscle autoimmune diseases such as polymyositis, inclusion-body myositis or d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cacheux M ; Fauré J ; Brocard J ; Monnier N ; Lunardi J ; Marty I | 2011Muscle contraction is achieved when an efficient excitation signal at the plasma membrane triggers intracellular calcium release. This process called "excitationcontraction (E-C) coupling" relies on a multimolecular protein complex, the calcium [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Portilho D ; Mamchaoui K ; Lanzarini C ; Capri M ; Salvioli S ; Franceschi C ; van der Maarel S ; Butler Browne G ; Dumonceaux J | AFM-TELETHON | 2011Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy and it is characterized by progressive weakness and atrophy of the facial and shoulder girdle muscles. FSHD is caused by deletion of most copies of the 3.3-kb subte[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Galy A ; Sambasivan R ; Yao R ; Kissenpfennig A ; Van Wittenberghe L ; Paldi A ; Gayraud-Morel B ; Guenou H ; Malissen B ; Tajbakhsh S | AFM-TELETHON | 2011INTRODUCTION: Muscle-derived cells are able to differentiate towards osteogenic, chondrogenic or adipogenic lineage, in addition of their myogenic potential. This raises many biological and clinical questions. The cellular bases and the role of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lepper C ; Partridge T ; Chen-Ming F | AFM-TELETHON | 2011Skeletal muscle tissue is prone to damage from acute physical trauma such as sport injuries as well as from daily wear and tear: this is managed by its tremendous capacity to repair itself. Cell transplantation and lineage tracing studies have d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Kostallari E ; Lafuste P ; Baba-Amer Y ; Gherardi RK | 2011Sublaminar location has been the cornerstone of both definition and identification of muscle satellite cells (mSCs), but little attention has been paid to the anatomic organization of the mSC niche, and interplays of mSCs with their neighborhood[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarrazin N ; Bangratz M ; Devaux J ; Zambroni D ; Echaniz-Laguna JA ; Rene F ; Boerio D ; Davoine CS ; Fontaine B ; Feltri ML ; Benoit E ; Nicole S | 2011Schwartz-Jampel syndrome (SJS) is a recessive disorder characterized by spontaneous activity in the rest EMG that may result from peripheral nerve hyperexcitability (PNH). SJS results from a lack of perlecan, the major proteoglycan of basement m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Daussin F ; Godin R ; Ascah A ; Deschênes S ; Petrof B ; Burelle Y | 2011We examined the mitochondrial phenotype in skeletal muscle in the early phase of Duchenne muscular dystrophy (DMD), and determined whether upregulation of mitochondrial biogenesis via PGC-1_ transfection is beneficial in the mdx mice, a murine m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jedrzejowska M ; Milewski M ; Zimowski J ; Kostera-Pruszczyk A ; Jurek M ; Hausmanowa-Petrusewicz I | AFM-TELETHON | 2011In this report we summarize the results of the work on the phenotype, epidemiology and molecular genetics of Polish cases of spinal muscular atrophy caused by SMN1 mutations.Biallelic loss of exon 7 of the SMN1 gene, the most frequent SMA mutati[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Briggs D ; Morgan J ; Boldrin L | 2011Satellite cells are the principal muscle stem cell, however not all satellite cells contribute equally to muscle regeneration. It is thought that there is a sub-population of satellite cells which is more 'stem cell like' than others. We aim to [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Viollet L ; Lewelt A ; Alvarez JC ; Reyna S ; Stoddard G ; Etheridge S ; LaSalle B ; Swoboda K | AFM-TELETHON | 2011The aim of this project is to determine whether 3,4 diaminopyridine (3,4DAP) is a viable treatment candidate for spinal muscular atrophy (SMA). Aminopyridines are voltage dependent potassium channel inhibitors that increase the duration and the [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Helmbacher F ; Caruso N ; Herberth B ; Bartoli M ; Dumonceaux J ; Lebossé M ; Maina F | AFM-TELETHON | 2011Generation of skeletal muscles with forms adapted to their function is essential for normal movement, and involves developmental mechanisms such as those regulating muscle diversification and migration. Understanding these developmental processe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Roig-Borrellas A ; Diaz-Ramos MA ; García-Melero A ; Lopez-Alemany R | AFM-TELETHON | 2011Plasminogen activation system (PA) plays an important role in the degradation of extracellular matrix components. Plasmin (Pli), the activated form of plasminogen (Plg), is implicated in several biological processes such as tissue remodelating a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cassinelli LM ; Maciotta S ; Gandolfi F ; Forcato M ; Bicciato S ; Meregalli M ; Torrente Y | 2011Duchenne muscular dystrophy (DMD) is a common X-linked disease characterized by frameshift mutations in the dystrophin gene. Among the molecular mechanisms potentially involved in DMD, we focused our attention on microRNAs (miRNAs) a new class o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pinto Mariz F ; Barthelemy I ; Yada E ; Voit T ; Silva-Barbosa SD ; Savino W ; Butler Browne G ; Blot S | 2011It is well known that the disease course in Duchenne muscular dystrophy (DMD) patients is heterogeneous, varying from patient to patient. Such heterogeneity is also seen in the Golden Retriever Muscular Dystrophy (GRMD) dogs. This is a drawback [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wahbi K ; Meune C ; Bécane HM ; Laforet P ; Behin A ; Stojkovic T ; Radvanyi-Hoffman H ; Eymard B ; Duboc D | AFM-TELETHON | 2011Background: Permanent pacing is recommended in patients with myotonic dystrophy type 1 (DM1) for the prevention of sudden cardiac death. However its impact on mortality is unknown.Methods: We retrospectively analyzed medical information of DM1 p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Diguet N ; Mallat Y ; Ladouce R ; Clodic G ; Tritsch E ; Blanc J ; Larcher JC ; Delcayre C ; Samuel JL ; Friguet B ; Bolbach G ; Li Z ; Mericskay M | 2011RATIONALE: Alterations in the balance between sarcomeric and extra-sarcomeric cytoskeleton as well as energetic proteins are involved in the remodelling of cardiomyocytes cytoarchitecture in dilated cardiomyopathy (DCM). OBJECTIVE: Inactivation [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Benedetti S ; Magagnotti C ; Bachi A ; Zerbini G ; Fattore E ; Riba M ; Previtali S ; M.Ferrari ; Andolfo A | 2011Lamins A/C, encoded by the LMNA gene, are intermediate filaments of the nuclear lamina playing multiple roles in nuclear integrity, chromatin organization and transcriptional control. Defects in the LMNA gene have been associated with a growing [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Denard J ; Beley C ; Kotin R ; Samulski J ; Moullier P ; Voit T ; Garcia L ; Svinartchouk F | 2011Despite the well-established safety and efficacy of rAAV vectors for in vivo gene transfer, there is still little information concerning the fate of vectors after systemic delivery. By using a proteomic approach, we screened for serum proteins i[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Barthelemy I ; Thibaud JL ; Aguilar P ; Le Chevoir M ; Blot S | 2011Most of DMD (Duchenne muscular dystrophy) patients die from respiratory failure. Their canine homologues, GRMD (Golden retriever muscular dystrophy) dogs, also develop respiratory dysfunction. The evaluation of this function seems essential duri[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carlier PG ; Loureiro De Sousa P ; Azzabou N ; Wary C ; Carlier RY | 2011Muscle imaging, and in particular NMR imaging, will play an increasingly important role, together with dynamometry and actimetry, for the evaluation of therapeutic interventions in patients with neuro-muscular disorders. To fulfil this mission, [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hébert L ; Puymirat J ; Saulnier J ; Vial C ; Remec JF | AFM-TELETHON | 2011Introduction. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that demonstrates variable symptoms and rates of progression. Muscle weakness is considered one of the main problems with a clinical picture that is characterized by distal [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guevel L ; Talon S ; Perez Iratxeta C ; Dubreil L ; Lavoie J ; Feron M ; Brand M ; Megeney L ; Rouger K | 2011Duchenne muscular dystrophy (DMD), the most common form of inherited neuromuscular disorder, is caused by null mutations in the dystrophin gene, leading to progressive and unrelenting muscle loss. Although the genetic basis of DMD is well resolv[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Borel P ; Guerchet N ; Tanniou G ; Bloch R ; Roche J ; Richard I ; Stockholm D | 2011Sarcolemmal disruptions in myofibers can represent a physiologic response to a particular mechanic stress like lengthening contractions. These membrane tears result in intracellular changes that play a crucial role in physiopathology of the dise[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Decorte N ; Cabrol L ; Drouet M ; Azzabou N ; Carlier PG | 2011Purpose. Abnormal skeletal muscle enhancement post Gd-contrast agent (Gd-CA) injection is a common feature on NMR images in inflammatory diseases but also inchronic interstitial fibrosis or in conditions where sarcolemma permeability is increase[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hardeman E ; Lee A ; Joya J ; Gunning P | 2011We are developing a strategy for the selective engraftment of stem cells in a solid tissue. It is based on the forced expression in transplanted cells of a mutant form of methylguanine methyltransferase [MGMT(P140K)] which can confer resistance [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guiraud A ; Baas D ; Schaeffer L ; Goillot E | AFM-TELETHON | 2011Membrane remodelling is a fundamental process in skeletal muscle. It is involved in the generation and repair of myofibers, the formation and maintenance of neuromuscular junctions, and the development of T-tubules. The importance of membrane re[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Castel D ; Sambasivan R ; Tajbakhsh S | 2011Satellite cells play a major role in postnatal growth and regeneration of skeletal muscle. Thus, satellite cells exhibit several attributes of stem cells: quiescence, selfrenewal and regenerative potential. Since all skeletal muscle satellite ce[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lacourpaille L ; Bouillard K ; Hug F ; Hogrel JY ; Nordez A | 2011Non-invasive measurements are required for monitoring neuromuscular disorders (NDM) and following the effects of rehabilitation/therapy programs. Since it provides localized elastic modulus (i.e. stiffness) measurements, elastographic methods co[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vincent L ; Féasson L ; Messonnier L | AFM-TELETHON | 2011Sickle cell disease (SCD) is an inherited blood disorder that leads to the production of abnormal haemoglobin (Hb), called HbS. In previous experiments, we have shown that sickle cell trait (SCT) carriers (heterozygous form of the disease, chara[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vandenburgh H ; Shansky J ; Benesch-Lee F ; Skelly K ; Spinazzola J ; Green S ; Saponjian Y ; Butler Browne G ; Mouly V ; Tseng B | AFM-TELETHON | 2011Skeletal muscle weakness and fatigue disorders affect millions of individuals each year and few treatments are available. A high content physiological drug screening technology was developed using skeletal muscle myoblasts bioengineered into con[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Domi T ; Porrello E ; Velardo D ; Capotondo A ; Triolo D ; Ruegg MA ; Biffi A ; Comi G ; Quattrini A ; Previtali S | 2011CMD is characterized by progressive wasting muscular dystrophy and dysmyelinating neuropathy with variable involvement of the central nervous system, which may lead to severe disability in early childhood. Among this group, laminin 2deficient CM[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Buyse G ; Goemans N ; van den Hauwe M ; Thijs D ; Wei H ; Rummey C ; Meier T ; Mertens L | 2011Background: A 12-month double-blind, randomized, placebo-controlled phase II study in 21 patients with DMD (DELPHI study) has indicated that idebenone (Catena®, 450 mg/d) may improve cardiac and respiratory function in 8-16 year old patients wit[...]Article
Reversal of myotonic dystrophy type 1 MIS-splicing events using truncated-muscle blind-like factor 1
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Tran H ; Lermercier C ; Dhaenens CM ; Fernandez-Gomez F ; Eddarkaoui S ; Begard S ; Obriot H ; Van Brussels E ; Caillierez R ; Buee L ; Charlet Berguerand N ; Schraen-Maschke S ; Déglon N ; Colin M ; Furling D ; Caillet-Boudin ML ; Sergeant N | AFM-TELETHON | 2011Myotonic dystrophy of type I (DM1), the most common form of adult muscular dystrophy, is an autosomal dominant multisystemic inherited disease. The mutation consists of an unstable CTG expansion in the 3'UTR of the DMPK gene, which confers to th[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stockholm D ; Edom-Vovard F ; Coutant S ; Sanatine P ; Corre C ; Neildez-Nguyen TMA ; Paldi A | AFM-TELETHON | 2011The Neural cell adhesion molecule (NCAM;CD56) is considered as a marker of myogenic cells committed to differentiation. It is commonly used for the enumeration of satellite cells and for the enrichment of myogenic cell population from muscle for[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lefebvre S ; Renvoisé B ; Verrier ER ; Quérol G | AFM-TELETHON | 2011Infantile muscular atrophy (SMA) is a group of inherited neuromuscular disorders cause by mutations in the Survival Motor Neuron (SMN) gene. SMAs are characterized by the degeneration of the alpha-motorneurons and muscular atrophy. The ubiquitou[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ben Yaou R ; Beugnet C ; Chikhaoui K ; Hamroun D ; Deburgrave N ; Kaplan JC ; Beroud C ; Bonne G ; Leturcq F | 2011In 1966, A. Emery and F. Dreifuss described a large family from Virginia, where affected males showed an unusual type of X-linked condition characterised by muscular dystrophy with early joint contractures and cardiac disease, thus starting the [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Giagnacovo M ; Malatesta M ; Cardani R ; Pellicciari C ; Meola G | AFM-TELETHON | 2011Myotonic dystrophies (DMs) have highly variable clinical manifestations consisting in muscle weakness and atrophy, and a wide spectrum of extramuscular manifestations. In both DM1 and DM2 forms, expanded nucleotide sequences cause the accumulati[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vassilopoulos S ; Gentil C ; Laine J ; Buclez PO ; Brodsky F ; Bonne G ; Voit T ; Garcia L ; Pietri Rouxel F ; Bitoun M | AFM-TELETHON | 2011Clathrin CHC17, the ubiquitous clathrin heavy chain encoded on human chromosome 17, is the main component of clathrin coated vesicles (CCV), well characterized for its role in vesicle formation during endocytosis of membrane receptors from the p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joanne P ; Ochala J ; Hourde C ; Hadj-Said W ; Mounier R ; Zibroba D ; Sakamoto K ; Agbulut O ; Butler Browne G ; Ferry A | AFM-TELETHON | 2011Dystrophin contributes to force transmission and has a protein-scaffolding role for a variety of proteins (e.g. mechanoreceptor, nNOS, DHPR&) and is thus emerged to play an important role as components of signaling pathways acting in skeletal mu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Villemeur M ; Biondi O ; Temchenko A ; Marchand A ; Bourg N ; Richard I ; Authier FJ | AFM-TELETHON | 2011Dysferlin is a membrane-anchored protein implicated in plasma membrane repair process. In mammalians, dysferlin deficiency induces persistent sarcolemma disruptions leading to myofiber necrosis and chronic myopathy. Dysferlin myopathy is charact[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Falcone S ; Gache V ; Didier N ; Sassoon D ; Gomes E | 2011Centronuclear myopathies (CNMs) are congenital muscle disorders, described for the first time in 1966 by A. Spiro, characterized morphologically by small fibers with centrally-positioned nuclei. Although, at present, mutations in at least three [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jessica KM ; Relaix F | AFM-TELETHON | 2011During embryogenesis, the skeletal muscle is constituted by myogenic progenitor cells. But around birth, foetal muscle progenitor cells adopt a satellite cell position, becoming embedded within the basal lamina in close contact to the muscle fib[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Deltour L ; Tajbakhsh S ; Poirier F | 2011Galectins belong to a family of soluble proteins that can be found both extracellularly and intracellularly. In vivo, their localisation is highly regulated depending on physiological situations. Several studies has established that, in addition[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ratti F ; Ramond F ; Gilquin B ; Zhang Y ; Khochbin S ; Matthias P ; Méjat A ; Schaeffer L | AFM-TELETHON | 2011Skeletal muscle atrophy is a widespread and debilitating disease that mainly results from the massive degradation of muscle proteins, together with an inhibition of regenerating activity. The main occurring event is the down-regulation of the ak[...]