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Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Borgne FL ; Logerot M ; Guyot S ; Demarquoy J | 2011The metabolic alterations occurring in DMD cells have been little studied. This metabolic aspect of the disease has an obvious interest since metabolic alterations arising in muscle cells lead to an altered energy production that may contribute [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Puymirat J ; Bouchard JP ; Mathieu J | 2011Objective: To evaluate the efficacy and tolerability of methylphenidate for the treatment of excessive daytime somnolence (EDS) in patients with myotonic dystrophytype 1(DM1). Methods: twenty-four patients with DM1 with the Epworth Sleepiness sc[...]Article
SRF (Serum Response Factor) is a MADS box transcription factor that regulates the expression of numerous genes involved in contraction, signaling or energy metabolism. Cardiac-specific Cre/loxP mediated inactivation of SRF leads to reduced contr[...]Article
Degerny C ; Pinna G ; Maury Y ; Kratassiouk G ; Mouly V ; Frandsen N ; Harel-Bellan A | AFM-TELETHON | 2011MicroRNAs (miRNAs) are key molecules in cell biology. Here, we used a genome-wide miRNA loss-of-function screen based on LNA antisense oligonucleotides in order to identify miRNAs that are essential for terminal differentiation of human skeletal[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Furling D | 2011La Dystrophie Myotonique de type I (DM1) est une des maladies neuromusculaires les plus fréquentes chez l'adulte. La mutation responsable de cette maladie autosomique dominante est une expansion de triplets CTG localisée dans la région 3' non-co[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Desaphy JF ; Carbonara R ; Costanza T ; Muraglia M ; Corbo F ; Lentini G ; Franchini C ; Conte Camerino D | 2011Mexiletine (Mex) and tocainide (Toc) are two sodium channel blockers marketed as class IB antiarrhythmic drugs and used off label as antimyotonic drug. In particular, Mex is considered as the first choice drug by many and a clinical trial is goi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bastide B ; Cieniewski-Bernard C ; Montel V | 2011O-N-acetylglucosaminylation, termed O-GlcNAcation (O-GlcNAc), is a reversible post-translational modification which presents a dynamic and highly regulated interplay with phosphorylation. New insights strongly suggest that this atypical glycosyl[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dupont E ; Cieniewski-Bernard C ; Bastide B ; Stevens L | 2011Numerous investigations provided strong evidence that the modulation of the activity of specific cell signaling pathways has an important role in neuromuscular disease progression and the development of therapies. We analyzed the role of PI3K-AK[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Karmouch J ; Sigoillot S ; Bourgeois F ; Krejci E ; Chevalier C ; Houlgatte R ; Leger J ; Legay C | 2011Congenital myasthenic syndromes (CMS) correspond to a class of human pathologies resulting from mutations in genes expressed at the neuromuscular junction (NMJ). These disorders are characterized by a dysfunction of the NMJ leading to muscle wea[...]Article
Escobar Cedillo RE ; Miranda A ; Ruano L ; Fernandez F ; Urtizberea JA ; Martinez E ; Krahn M ; Guizar R | 2011Introduction. Limb-girdle muscular dystrophy (LGMD) encompasses a genetically heterogeneous group of disorders characterized by proximal muscle weakness with adominant or recessive inheritance. One of the involved genes is the dysferlin. Dysfe[...]Article
Muscle cell formation is a coordinated process of tissue-specific gene expression, proliferation and differentiation. In order to safeguard the developing progenitor cells against a prolonged proliferation or a premature differentiation, cell cy[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Delalande O ; Del Giudice E ; Hubert JF ; Le Rumeur E | 2011Dystrophin is a long filamentous protein, its central region is made by 24 successive spectrin-like repeats structured in a coiled-coil (bundle of three alpha-helices) arrangement [1]. Its biological function is essential for keeping the integri[...]Article
Tolar J ; Adair JE ; Antoniou M ; Bartholomae CC ; Becker PS ; Blazar BR ; Bueren J ; Carroll T ; Cavazzana-Calvo M ; Clapp DW ; Dalgleish R ; Galy A ; Gaspar HB ; Hanenberg H ; von Kalle C ; Kiem HP ; Lindeman D ; Naldini L ; Navarro S ; Renella R ; Rio P ; Sevilla J ; Schmidt M ; Verhoeyen E ; Wagner JE ; Williams DA ; Thrasher AJ | 2011Accès au résumé PubMed / to PubMed abstractArticle
Erratico S ; Villa C ; Razini P ; Cassinelli LM ; Parolini D ; Meregalli M ; Belicchi M ; Torrente Y | AFM-TELETHON | 2011Peripheral blood is a promising alternative source of stem cells for transplantation for the treatment of different malignancies. Using CD133, as a marker of stemness, we identified a subpopulation of purified blood-derived stem cells which diff[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Karine C ; Daniele N ; Florence L ; Vihola A ; Roudaut C ; Monjaret F ; Pion D ; Tarrade A ; Sarparanta J ; Udd B ; Richard I | 2011Titin is a giant protein expressed in both skeletal and cardiac muscles. Several pathogenic mutations were identified in its two last exons causing muscular dystrophy phenotypes. The most common mutation, FINmaj, results in the replacement of 4 [...]Article
Renou L ; Papadopoulos A ; Beuvin M ; Lacene E ; Arimura T ; Gruenbaum Y ; Bonne G | AFM-TELETHON | 2011LMNA gene encodes for lamins A/C, ubiquitous proteins of the nuclear envelope in post-mitotic cells. Lamin A/C are thought to have structural but also essential regulatory roles in various signalization pathways by interactions with transcriptio[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bertrand A ; Renou L ; Papadopoulos A ; Beuvin M ; Lacene E ; Arimura T ; Gruenbaum Y ; Bonne G | 2011LMNA gene encodes for lamins A/C, ubiquitous proteins of the nuclear envelope in post-mitotic cells. Lamin A/C are thought to have structural but also essential regulatory roles in various signalization pathways by interactions with transcriptio[...]Article
AFM-TELETHON 2011Dystrophin, with its modular structure, and in particular its central domain made up of 24 spectrin-like repeat motifs, is a protein that can support the deletion of certain internal areas provided that the final reading frame is preserved. Taki[...]Article
During embryonic development and embryonic stem cell (ESC) differentiation, the different cells forming the mature heart arise from the differentiation of two types of multipotent cardiovascular progenitors (MCPs). Using mouse embryonic stem cel[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; van den Berg L ; Drost M ; Schaart G ; de Laat J ; van Doorn P ; van der Ploeg A ; Reuser A | 2011Background: Pompe disease is an inherited lysosomal glycogen storage disorder caused by the deficiency of acid a-glucosidase. Skeletal muscle damage is attributed to lysosomal rupture and the release of glycogen and lysosomal enzymes into the cy[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brigite M ; Adriouch S ; Authier FJ ; Boyer O ; Gherardi RK ; Chrétien F | 2011Myology textbooks describe muscle fibroblasts on the grounds of EM studies as independent cells and envisage them only as collagen-producing cells. Lack of muscle fibroblast marker likely represents one cause of our ignorance about this cell sub[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chen SF | 2011Purpose: To study the ultrastructural changes of muscle in patients with cerebrotendinous xanthomatosis (CTX) and make a correlation with the Tc99m-sestamibi thighSPECT/CT images (a noninvasive tool for the evaluation of the mitochondrial status[...]Article
Fugier C ; Vassilopoulos S ; Vignaud A ; Ferry A ; François V ; Precigout G ; Garcia L ; Butler-Browne GS ; Charlet Berguerand N ; Furling D | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. This disease is characterized, among other symptoms, by progressive muscle atrophy and weakness, myotonia and cardiac defects. DM1 is an autosomal dominant diseas[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Del Fraro G ; Meregalli M ; Farini A ; Belicchi M ; Parolini D ; Razini P ; Cassinelli L ; Angeloni V ; Maciotta S ; Bresolin N ; de Silva Bizario J ; Garcia L ; Torrente Y | 2011In DMD, skeletal and cardiac muscles are affected, leading to wheelchair dependency, respiratory failure and premature death. A combination of different strategies might enhance the possibility of successful therapy. We isolated CD133+ cells fro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bonnamy B ; Barrey E ; Mata X ; Chaffaux S ; Guerin G | 2011MicroRNAs (miRNA) are small endogenous non-coding interfering RNA molecules (18-25 nucleotides) regarded as major regulators in eukaryotic gene expression. They play a role in developmental timing, cellular differentiation, signaling and apoptos[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bel C ; Bidault des Chaumes A ; Mahaut I ; Orssaud L | 2011What is Myobase ?Myobase is a bilingual database (French/English) which provides access to bibliographic information updated daily in the field of myology and motor handicap. It is implemented by the AFM Library. What would you find in Myobase ?[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lambert V ; Capderou A ; Gouadon E ; Le Bret E ; Rucker-Martin C ; Dinanian S ; Stos B ; Renaud JF | 2011Purpose: Advances in cardiac surgery have improved short-term prognoses of patients with congenital heart diseases but, at long-term, right ventricular (RV) failure may occur, leading to morbidity and mortality. As conventional therapy gives poo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Clément N ; Pisani D ; Sacconi S ; Desnuelle C ; Dani C ; Dechesne CA | 2011INTRODUCTION: Muscle-derived cells are able to differentiate towards osteogenic, chondrogenic or adipogenic lineage, in addition of their myogenic potential. Thisraises many biological and clinical questions. The cellular bases and the role of t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Espartaco R ; Margaret M ; Eck P ; Leroy F ; Moirot P ; Lamy T ; Françoise C | 2011An obese (1m65, 105 kg) woman presented since the age of 53 years, in 2002, a facial weakness, initially left, then bilateral, associated with an hypoesthesia in the territory of the lower branch of the fifth cranial nerve and with a paralysis o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Etienne M ; Giannesini B ; Mille-Hamard L ; Relizani K ; Denis R ; Hourde C ; Agbulut O ; Lutzkendorf S ; Arandel L ; Vignaud A ; Garcia L ; Ferry A ; Luquet S ; Billat V ; Bendahan D ; Ventura-Clapier R ; Schuelke M ; Amthor H | 2011The function of myostatin to restrict growth of the body musculature is often regarded as disadvantageous, because muscle prowess commonly associates with health and fitness.Here, we show that larger skeletal muscle that developed in absence of [...]Article
Our aim is to understand how skeletal muscle form and grow during vertebrate embryonic development. The early skeletal muscle (the primary myotome, composed of mononucleated, post-mitotic muscle fibers, the myocytes) is formed from the generatio[...]Article
There are clinical, neurophysiological, neuropsychological and neuroimaging evidences of brain dysfunctions in DM1 (see Meola et al., 2007 for a review). Hypotheses of developmental abnormalities in the congenital form and neurodegenerative chan[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Makri S ; Salhi S ; Richard P ; Terki N ; Romero NB ; Guicheney P ; Kaci-Ahmed MA | 2011Introduction. Mutations in the FKRP gene result in a wide spectrum of clinical conditions ranging from of congenital muscular dystophy (MDC1C) to a milder form of limb girdle muscular dystrophy (LGMD2I). Both intelligence and brain imaging have [...]Reco PNDS
Article
Myotonic dystrophy type 2 (DM2) and related disorders Report of the 180th ENMC Workshop including guidelines on diagnostics and management (3-5 December 2010; Naarden, The Netherlands) ; Udd B ; Meola G ; Krahe R ; Wansink DG ; Bassez G ; Kress W ; Schoser B ; Moxley R | 2011Accès au résumé PubMed / to PubMed abstract 13/10/2011 - Le 180e séminaire organisé par l’ENMC a porté sur la dystrophie myotonique de type 2 En décembre 2010, s’est déroulé le 5e séminaire organisé par l’ENMC, à Naarden (Pays-Bas[...]Article
Leung DG ; Germain-Lee EL ; Denger BE ; Wagner KR | 2011Accès au résumé PubMed / to PubMed abstractArticle
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bucher T ; Joussemet B ; Astord S ; Briot-Nivard D ; Wakeling E ; Fyfe J ; Costiou P ; Marais T ; Hogrel JY ; Voit T ; Moullier P ; Barkats M | 2011Domestic cats exhibiting a recessive form of lower motor neuron (MN) degeneration, associated with a deletion of the lix1 gene, represent a large animal model of type III spinal muscular atrophy (SMA). In this study, we first analyzed the effici[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cluet D ; Dibenedetto S ; Drouin E ; Spichty M ; Yu LL ; Thomas JL ; Gangloff YG ; Yuan CG ; Schaeffer L ; Zoli M ; Rudkin B ; Zhang Q ; Ding S | 2011One of the most important and time-consuming challenge in vivo studies of neuro-muscular diseases is to precisely monitor subtle and significant modifications of thecharacteristics within the myofiber population. To date, counting and shape desc[...]Article
Duque S ; Dominguez E ; Besse A ; Roda M ; Astord S ; Marais T ; Carcenac R ; Jacob A ; Gonzalez-Iribarren L ; Barkats M | AFM-TELETHON | 2011Intravenous (IV) delivery of self-complementary AAV9 (scAAV9) has been reported to be highly efficient for CNS gene transfer due to effective crossing of the bloodbrain- barrier (BBB). We and others recently showed that a single IV injection of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carole V ; Pascal R ; Bérard C | 2011Author:C. Vuillerot1, P. Rippert1, C. Brd1 and the NM-Score study group21 L'Escale, HFME, HCL, France2 France (Angers, Grenoble, Hendaye, Lille, Marseille, Montpellier, Nice, Paris, St Denis de la Rion, St Etienne, Toulouse, Vandoeuvre les Nancy[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dangelo MG ; Gandossini S ; Sciorati C ; Bonato S ; Brighina E ; Boneschi FM ; Comi GP ; Turconi AC ; Brunelli S ; Baldelli S ; Cattaneo D ; Bresolin N ; Clementi E | 2011ObjectiveWe performed a pilot study with the primary aim to establish the safety, tolerability of a combination of the NO donor isosorbide dinitrate and the non steroid antiinflammatorydrug ibuprofen in a cohort of adult patients affected by mus[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Billiet L ; Gonçalves C ; Berchel M ; Jaffrès PA ; Montier T ; Lehn P ; Bertrand E ; El-Ghoul Y ; Cheradame H ; Guegan P ; Pichon C ; Midoux P | 2011Duchenne muscular dystrophy (DMD) is one of the most severe myopathies caused by mutations in the dystrophin gene. Gene therapy is being investigated to introduce by non viral vectors, the normal dystrophin gene into skeletal muscle cells. The k[...]Livre
Les perspectives de vie et de mort sont renouvelées par les avancées de la médecine et par les compétences accrues des services hospitaliers. Comment les possibilités désormais ouvertes et offertes aux patients transforment-elles ou infléchis[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Gagnon C ; Mathieu J | 2011La prise en charge des personnes atteintes de dystrophie myotonique de type 1 (DM1) est un modèle de complexité à plusieurs niveaux incluant la prise en charge des atteintes multisystémiques, la personnalité atypique, l'environnement social dist[...]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
Leturcq F ; Cossee M ; Deburgrave N ; Orhant L ; Kaplan JC ; Stojkovic T ; Laforet P ; Behin A ; Brais B ; Chelly J | 2011Mutations in the anoctamin 5 (ANO5) gene , which encodes a putative calcium-activated chloride channel, have been described in patients with limb-girdle muscular dystrophy (LGMD2L) and distal myopathies. The mutations described so far are point [...]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
Hentati F ; Rigolet A ; Behin A ; Romero NB ; France L ; Pascal L ; Maisonobe T ; Amouri R ; Haddad H ; M.Audit ; Montus M ; Masurier C ; Gjata B ; Georger C ; Cherai M ; Carlier P ; Hogrel JY ; Herson A ; Lemoine FM ; Klatzmann D ; Sweeney L ; Mulligan RC ; Eymard B ; Caizergues D ; Voit T ; Herson S | AFM-TELETHON | 2011BACKGROUND Gamma-sarcoglycanopathy or limb girdle muscular dystrophy type 2C (LGMD 2C) is an untreatable disease caused by autosomal recessively inherited mutations of the -sarcoglycan gene (SGC). METHODS Nine non-ambulatory LGMD2C patients (2 M[...]Article
AFM-TELETHON 2011Mesoangioblasts are recently characterized progenitor cells, associated with the vasculature and able to differentiate into different types of solid mesoderm, including skeletal muscle (Minasi et al. Development 129, 2773, 2002). When wild type [...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Bassez G | 2011Près d'un siècle après la description fondatrice d'Hans Steinert, la génétique moléculaire a provoqué l'émergence d'une nouvelle entité, la dystrophie myotonique de type 2 (DM2) au sein d'une nomenclature revisitée. Elle est comme la DM1 causée [...]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
Generation 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
AFM-TELETHON 2011The lack of existing models of pathologic tissues has rendered many important questions in disease pathogenesis inaccessible. Human embryonic stem cells derived from affected embryos during a pre-implantation diagnostic (PGD), as well as the tec[...]Article
Alao Maroufou J ; Leturcq F ; Sagbo G ; Urtizberea JA ; Réseau Ouest Africain de prise en charge des Myopathies | 2011INTRODUCTION : Les maladies neuromusculaires sont présentes partout dans le monde. Peu de cas ont été rapportés en Afrique subsaharienne. Des professionnels africains réunis au sein du Réseau Ouest Africain de prise en charge des Myopathies (ROA[...]Article
Valadares M ; Zucconi E ; Secco M ; Bueno Junior C ; Brandalise V ; Assoni A ; Gomes J ; Landini V ; Andrade T ; Lima B ; Vainzof M ; Zatz M | AFM-TELETHON | 2011The possibility to use stem-cells in the future as a therapy for progressive muscular dystrophies has been of great interest. However, many questions still need to be addressed. What is the best way of delivery: local or systemic? What are the b[...]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)) ; 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
AFM-TELETHON 2011During development, founder stem cells proliferate, and cell cycle exit is generally restricted to differentiating cells. In contrast, adult stem cells, can assume different cellular states, either quiescence or proliferating. After embryonic de[...]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
Hammer C ; Puymirat J ; Bassez G ; Allain F ; Furling D ; Charlet Berguerand N | AFM-TELETHON | 2011Myotonic Dystrophy (DM) is the most frequent muscular dystrophy in adult. Myotonic Dystrophy type 1 (DM1) is caused by an expansion of CTG repeats located within the 3'-untranslated region of the DMPK gene, while DM2 is caused by an expansion of[...]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)) ; 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
Fardeau M, Auteur | 2011Un grand nombre de maladies neuromusculaires d'origine génétique touchent les muscles du visage, et donc les modalités d'expression faciale des personnes atteintes. Les mécanismes, les variantes topographiques et sémiologiques de cette atteinte [...]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)) ; 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)) ; 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
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)) ; 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
Cacchiareli D ; Cazzella V ; Cesana M ; Incitti T ; Pinnaro C ; Legnini I ; Morlando M ; Bozzoni I | AFM-TELETHON | 2011MicroRNAs are recognized as important regulators of gene expression in the differentiation commitment of several cell types and have been shown to occupy very high hierarchical positions in the cascade of regulatory events controlling cell speci[...]Article
Hubert L ; Romero NB ; Viollet L ; Laforet P ; Mathew S ; Bekri S ; Kirk E ; Peters H ; McGill JJ ; Glamuzina E ; von der Hagen M ; Alexander IE ; Kirmse B ; Vaz FM ; Munnich A ; Elpeleg O ; Delahodde A ; de Keyzer Y ; de Lonlay P | AFM-TELETHON | 2011Introduction: Main metabolic causes of myopathies are fatty acid oxidation (FAO) deficiencies. LPIN1 defects have been involved in severe and early rhabdomyolysis. Lipin1 plays a dual role, as a phosphatidate phosphatase 1 (PAP1) and as a transc[...]Article
The plasminogen activation (PA) system is a mechanism extensively used by the cell for the generation of proteolytic activity in the extracellular matrix, where it contributes to tissue remodeling in a wide range of physiopathological processes.[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Christodoulou-Vafeiadou E ; Favier M ; Navière A ; Maire P ; Guillet-Deniau I | 2011Intramyocellular lipid deposition contributes to muscle insulin resistance, particularly in obese, type 2 diabetic patients, or in patients with myotonic dystrophy. On the other hand, disruption of Wnt signaling caused transdifferentiation of my[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Boutonnet C ; Bello NF ; Lamsoul I ; Métais A ; Mouly V ; Lutz P ; Moog-Lutz C | 2011Our work is based on human primary myoblast cultures derived from single satellite cells. In human, as in other species, it is well established that myoblast differentiation is mainly controlled by two families of transcription factors, the Myog[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Castets P ; Bertrand A ; Beuvin M ; Ferry A ; Grand FL ; Castets M ; Chazot G ; Rederstorff M ; Krol A ; Lescure A ; Romero NB ; Guicheney P ; Allamand V | 2011In humans, selenoprotein N (SelN) deficiency, due to mutations in the SEPN1 gene, causes a group of inherited neuromuscular disorders termed SEPN1-Related Myopathies. These congenital diseases are characterized by an early onset generalized musc[...]Article
AFM-TELETHON 2011Myotonic Dystrophy type 1 (DM1) also called Steinert disease is one of the most common form of inherited neuromuscular disorders in adults characterized by progressive muscle weakness and wasting, myotonia as well as many other multisystemicdefe[...]Article
Bohm J ; Gras S ; Müller J ; Plewniak F ; Keime C ; Vicaire S ; Jost B ; Mandel JL ; Biancalana V ; Laporte J | AFM-TELETHON | 2011Neuromuscular diseases (NMD) are debilitating diseases with a strong impact on the individuals and the society. Despite tremendous research and clinical efforts, the molecular causes of NMD are still unknown for about 40% of patients, and additi[...]Article
AFM-TELETHON 2011Maintenance of muscle mass and physiology is essential for general health. Disuse (e.g. immobilization, denervation, and microgravity), inherited neuromuscular disorders, and aging all result in debilitating loss of skeletal muscle. Given the si[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Picchio L ; Taghli O ; DaPonte JP ; Jagla C | 2011Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder affecting 1/8000 individuals worldwide. This disease is caused by an unstable expansion of CTG trinucleotide repeats located in the 3' untranslated region of the dystrophy myot[...]Article
Kabzinska D ; Kabzinska D ; Niemann A ; Drac H ; Huber N ; Suter U ; Hausmanowa-Petrusewicz I | AFM-TELETHON | 2011Nonsense-truncating mutations acting by a loss of function mechanism, located in the GDAP1 gene, have been thought to be associated with severe forms of AR-CMT2 disease.The patients harboring nonsense GDAP1 gene mutations usually manifest with f[...]Article
AFM-TELETHON 2011Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is an autosomal recessive debilitating disorder affecting young adults with the age of onset ranging from 15 years to late thirties. The disease [...]Article
AFM-TELETHON 2011Skeletal muscle atrophy is a significant co-morbidity seen in a variety of diseases, including Congestive Heart Failure, renal failure, cancer, and AIDS. Even during simple muscle inactivity, such as when a cast is put on a limb, the affected mu[...]Article
Six1 and Six4 are homeoproteins of the Six/sine oculis family. These proteins are expressed continuously during muscle development: in the dermomyotomal hypaxial myogenic progenitors, they control Pax3 expression and myogenic progenitors fate; i[...]Article
Petiot J ; de Dreuzy E ; Richard I ; Stockholm D | 2011Dysferlin deficient muscle fibers have been shown to be defective in membrane repair after a laser wounding damage of the sarcolemme. In vivo, sarcolemmal membrane disruption can either lead to fiber necrosis or repair but little is known about [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Coletti D ; Aulino P ; Mericskay M ; Li Z ; Adamo S | 2011In humans, selenoprotein N (SelN) deficiency, due to mutations in the SEPN1 gene, causes a group of inherited neuromuscular disorders termed SEPN1-RelatedMyopathies. These congenital diseases are characterized by an early onset generalized muscl[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mamaeva D ; Mesirca P ; Torrente A ; Arsic N ; Nargeot J ; Mangoni M ; Lamb N ; Fernandez A | 2011Adult stem cells can be isolated from skeletal muscle and display spontanous multi-lineage differentiation including towards cardiac lineage. (Arsic et al. 2008)*. Before differentiation and in addition to Sca-1 and Bcrp1/ABCG2, skeletal Muscle-[...]Article
Mesirca P ; Torrente A ; Arsic N ; Nargeot J ; Mangoni M ; Lamb N ; Fernandez A | AFM-TELETHON | 2011Adult stem cells can be isolated from skeletal muscle and display spontanous multi-lineage differentiation including towards cardiac lineage. (Arsic et al. 2008)*. Before differentiation and in addition to Sca-1 and Bcrp1/ABCG2, skeletal Muscle-[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stuelsatz P ; Shearer A ; Kirillova I ; Yablonka-Reuveni Z | 2011Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder affecting 1/8000 individuals worldwide. This disease is caused by an unstable expansion of CTG trinucleotide repeats located in the 3' untranslated region of the dystrophy myot[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Latil M ; Rocheteau P ; Tajbakhsh S ; Chrétien F | 2011Stem cells are usually located in a niche more or less defined both micro-anatomically and molecularly that insures their maintenance, their quiescence state and the self-renewal. As an example, part of hematopoietic stem cells is found in a nic[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carlier PG ; Thibaud JL | 2011Background. Except for fatty infiltration mapping, skeletal muscle T1-weighted (T1w) NMR imaging is reputed to be non-informative, in particular with regard to myocyte inflammation, oedema, necrosis or more broadly speaking cell damage. These pa[...]