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Documents disponibles dans cette catégorie (3073)
Publication AFM
Réunion annuelle du réseau des myopathies des cientures (22 décembre 2004; Paris, Institut de Myologie) ; Reis A | 03/2005Texte intégral de l'article : Le 22 décembre 2004, s'est tenue, à l'Institut de Myologie, la réunion annuelle du réseau des myopathies des ceintures (LGMD). Médecins et chercheurs ont fait le point sur les projets prévus et en cours. [...]Livre
Brun D, Directeur de publication ; Douville O, Validateur ; Frischmann M ; Gargiulo M ; Gori R ; Munnich A ; Thalabard JC ; Vanier A | Etudes freudiennes | 15/01/2005L'annonce fait le quotidien de la rencontre entre médecins et patients, avec des effets immédiats et différés. On sait que la parole médicale n'est pas toujours mesurable : parole attendue, parole redoutée, parole mal entendue, parole sécurisant[...]Article
Publication AFM
Texte intégral de l'article : Les 24 et 25 septembre 2004, s'est tenu, à Marseille, le colloque de l'association Europrogeria organisé par le chercheur Nicolas Lévy. Thème de ces deux journées, les lamines et les laminopathies ont été[...]Publication AFM
Biard E | 01/2005Texte intégral de l'article : Les modalités du futur essai, multicentrique et international, destiné à évaluer et à comparer les effet des corticoïdes dans la dystrophie musculaire de Duchenne (DMD) ont été présentées lors du workshop[...]Livre
Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Strochlic L ; Cartaud A ; Méjat A ; Grailhe R ; Schaeffer L ; Changeux JP ; Cartaud J | 2005Communication n° 643 The muscle-specific receptor tyrosine kinase (MuSK) is part of an agrinreceptor complex, that orchestrates the differentiation of the neuromuscular junction (NMJ). Activation of MuSK stimulates tyrosine phosphorylation and d[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Araar M ; El Euch G ; Zouari M ; Hentati F | 2005Communication n° 519 Background: Abetalipoproteinemia is a very rare autosomal recessive disease caused by mutations in the MTP gene (Microsomal Triglyceride Transfer Protein). The clinical features include gastrointestinal, ophthalmologic, haem[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ryten M ; Koshi R ; Knight G ; Greensmith L ; Cockayne D ; Ford A ; Burnstock G | 2005Communication n° 572 The ion-channel subunit P2X2 is one of seven known subunits forming homomeric and heteromeric receptors for ATP. This receptor subunit is expressed in developing mammalian skeletal muscle, but not in adult muscle fibres. The[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bernard V ; Dobbertin A ; Krejci E | 2005AChE is organized in tetramers by two associated proteins, the collagen Q (ColQ) and a transmembrane protein (PRiMA: Proline Rich Membrane Anchor). ColQ targets tetramers to the basal lamina (BL) and PRiMA to the plasma membrane. Biochemical ana[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Krejci E ; Akaaboune M | 2005Communication n° 342 At the mammalian neuromuscular junction, Acetylcholinesterase (AChE) controls the temporal stimulation of the muscle by the nerve. AChE is concentrated in the basal lamina and classical experiments suggest that this enzyme i[...]Article
Congrès International de Myologie - Nantes du 9 au 13 mai 2005 Communiqué de presse - Evry, le 19 avril 2005 Comprendre le muscle et guérir ses maladies : l’ère des essais sur l’Homme. Bouger, tendre la main, marcher, sauter, se relever, mais[...]Livre
Actes de colloque : 3èmes Journées Annuelles de la Société Française de Myologie - En mémoire du Professeur René CouteauxArticle
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Hinard V ; Konig S ; Bader C ; Bernheim L | 2005Communication n° 155. During post-natal growth or after muscle injury, skeletal muscle myoblasts differentiate and fuse to form myotubes. We have shown recently that one of the earliest events of the differentiation is the hyperpolarization of h[...]Article
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Brzoska E. ; Wrobel E ; Moraczewski J | 2005Communication n° 243. Introduction : Cell-extracellular matrix and cell-cell adhesion play essential roles during myogenesis. Several adhesion proteins were postulated to play a role in this process and among them are: integrin a3ß1, M-cadherin,[...]Article
Mitjavila-Garcia MT ; Simonin C ; Peschanski M | 2005Accès au résumé PubMed / to PubMed abstractArticle
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mroue G ; Prigent H ; Orlikowski D ; Bohic M ; Baconnier P ; Lofaso F ; Benchetrit G | 2005Communication n° 662 Patients with advanced neuromuscular diseases often require chronic mechanical ventilation. Long term-assisted ventilation often has to address the problem of leakage, whether the device used is a nasal mask or tracheostomy.[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nowak K ; Sewry C ; Potter A ; Squire S ; Fisher R ; Marston S ; Davies K ; Laing N | 2005Communication n° 177. INTRODUCTION Mutations in the skeletal muscle alpha-actin gene (ACTA1) have been shown to cause pathologically distinct congenital myopathies: actin myopathy, intranuclear rod myopathy, nemaline myopathy, core-rod myopathy,[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Le Bihan M ; Hou Y ; Coulton G | 2005Communication n° 356. Introduction : Skeletal muscle can hypertrophy, atrophy and alter fibre type in response to external stimuli. Disease also generates typical pathologic changes in phenotype. Identification of molecular networks underpinning[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Riederer I ; Negroni E ; Bencze M ; Savino W ; Mouly V ; Silva-Barbosa SD ; Butler-Browne GS | 2005Communication n° 501 Myoblast transplant therapy (MTT) can be envisioned as a clinical alternative in the treatment of several myopathies. The problems that remain to be solved to improve the efficiency of MTT is the massive early death of trans[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Riederer I ; Negroni El ; Savino W ; Bencze M ; Mouly V ; Silva-Barbosa SD ; Butler-Browne GS | 2005Communication n° 495 Myoblast transplant therapy (MTT) can be envisioned as a clinical alternative in the treatment of several myopathies. The problems that remain to be solved to improve the efficiency of MTT is the massive early death of trans[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Le Panse R ; Clairac G ; Truffault F ; Berrih-Aknin S | 2005Communication n° 506 Myasthenia Gravis (MG) is an autoimmune disease due to autoantibodies directed against components of the neuromuscular junction and leading to disabling fatigability of muscles. Our objective, using microarrays, was to ident[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bidaud I ; Tuluc P ; Bourinet E ; Nargeot J ; Flucher B ; Lory P | 2005Communication n° 79 Hypokalemic periodic paralysis type 1 (HypoPP1) is associated with mutations within the pore subunit (CaV1.1/a1S) of the skeletal muscle L-type voltage-dependent calcium channel (L-type VDCCs). To date, three missense mutatio[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jenkins C ; Lebihan-Duval E ; Simon J ; Cogburn LA ; Duclos MJ | 2005Communication n° 713. INTRODUCTION : In order to have a global view of the gene networks controlling growth performance, transcriptome analysis was used on genetic models of chickens divergently selected for high or low growth rate (Ricard et al[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Kordeli E ; Hopitzan A ; Baines A ; Ludosky MA ; Recouvreur M | 2005Communication n° 441. Ankyrins are a family of modular membrane adapter proteins that are ubiquitous in metazoans. They are involved in the biogenesis of membrane domains by coupling diverse cell adhesion molecules (CAMs) and ion channels to the[...]Livre
Cet ouvrage offre une réflexion sur le thème de l'annonce du handicap à l'adolescence, réflexion menée par de nombreux intervenants au cours d'une rencontre organisée en partenariat avec la Fondation Santé des Etudiants de France. Parce que l'ad[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Fayet G ; Auré K ; Leroy JP ; Lacene E ; Laforet P ; Ogier de Baulny H ; Romero NB ; Lombès A | 2005Communication n° 381. Mitochondrial DNA (mtDNA) deletions were the first mtDNA alterations identified as the cause of mitochondrial diseases. They have been associated with three clinical presentations : two severe multisystemic diseases with ea[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ben Yaou R ; Beroud C ; Chikhaoui K ; Helbling-Leclerc A ; Claustres M ; Récan D ; Bonne G | 2005Communication n° 619 Introduction: Laminopathies are a group of 10 heterogeneous disorders caused by mutations of LMNA gene encoding lamins A/C two nuclear envelope proteins. Among laminopathies three disorders specifically affect skeletal and c[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Boerio D ; Lefaucheur JP ; Creange A ; Hogrel JY | 2005Communication n° 234. INTRODUCTION : The achievement of a motor task induces an effort-related fatigability implying several mechanisms. Fatigability can be due to either central (central drive, reflex activity) or peripheral (peripheral nervous[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Chazalette D ; Hnia K ; Rivier F ; Hugon G ; Mornet D | 2005Communication n° 206 Muscle fibers attach to laminin in the basal lamina using two mechanisms that have been studied in this work. The first one involves dystrophin-associated protein complex (DAPC) and the second one implies muscle-specific alp[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; de la Porte S ; Voisin V ; Sébrié C ; Matecki S ; Yu H ; Gillet B ; Ramonatxo M ; Israel M | 2005Communication n° 403 A possible treatment for Duchenne muscular dystrophies would be to compensate for dystrophin loss by increasing the expression of utrophin, another cytoskeletal protein of the muscle membrane. We previously found that L-argi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bassez G ; Radvanyi H ; Chapoy E ; Authier FJ ; Eymard B ; Gherardi R | 2005communication n° 536 Introduction : Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by a noncoding (CTG)n and (CCTG)n expansion mutation respectively. Both disorders are characterized by nuclear sequestration of mutant CUG-containing[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Cossee M ; de Saint-Martin A ; Samimi S ; Recan-Budiartha D ; Laugel V ; Mohr M ; Mandel JL ; Koenig M | 2005Communication n° 544 Duchenne and the less frequent Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutations in the gene encoding the dystrophin muscle skeletal protein. In contrast with the severe DMD form in whi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Salloum A ; Massard A ; Cuisset JM ; Hurtevent JF ; Vallée L | 2005Communication n° 360 SUMMARY: Acute motor axonal neuropathies (AMAN) have been recently individualised as a specific entity in patients presenting with Guillain Barré syndrome. In the literature, very few pediatric cases have been so far describ[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laugraud A ; Ségalat L | 2005Communication n° 58. We study muscle degeneration due to the absence of dystrophin. This protein and other molecules of the dystrophin complex have conserved homologues in the nematode Caenorhabditis elegans genome. The structural and molecular [...]Article
Romero NB, Auteur ; Monnier N ; Taratuto AL ; Cuisset JM ; Lubinieski F ; Nivoche Y ; Barois A ; Leroy JP ; Fardeau M ; Lunardi J | 2005Communication n° 402. Central Core Disease (CCD) was the first congenital muscle disorder described based on structural changes of the muscle fibres (Shy & Magee, 1956; Greenfield et al, 1958). It is generally considered as one of the more frequ[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; van Parijs V ; van Goethem G ; Martin J ; van den Bergh P | 2005Communication n° 317. Autosomal dominant progressive external opththalmoplegia (adPEO) is characterized by ptosis and weakness of the extraocular muscles. Mutations within several nuclear genes (ANT1, C10orf2, POLG) were recently discovered to b[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Navarro C ; Sobrido J ; Fernandez J ; Fontoira E ; Perez-Sousa C ; Cabello A ; Teijeira S ; Rivas E ; Delague V | 2005Communication n° 352. INTRODUCTION : Congenital Fibre Type Disproportion (CFTD) is a non- or slowly progressive muscle disease with relative type 1 fibre smallness. The natural course is variable and a severe progression has been observed in som[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Viollet L ; Maystadt I ; Leclair-Richard D ; Estournet Mathiaud B ; Barois A ; Renault F ; Routon MC ; Durand MC ; Lefebvre S ; Munnich A ; Verellen-Dumoulin C | 2005Communication n° 577 Lower Motor Neuron diseases (LMND) form a wide spectrum of rare sporadic and hereditary neuromuscular disorders, characterized by progressive degeneration of the motor neurons of the spinal cord. We reported here the clinica[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Serose A ; Prudhon B ; Salmon A ; Doyennette-Moyne MA ; Fiszman M ; Fromes Y ; Doyennette MA | 2005Communication n° 202 Introduction : As cardiac disorders are a common complication in neuromuscular disorders, it seems essential to treat both skeletal and cardiac muscles in these pathologies. Dilated cardiomyopathies (DCM) are due to progress[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Le Rumeur E ; Cluchague N ; Rocher C ; Pottier S ; Cherel Y | 2005Communication n° 86. Duchenne Muscular Dystrophy (DMD), and mdx mouse and grmd dog dystrophies result from X-linked genetic defects leading to a lack of dystrophin. Dystrophin is involved in the dystrophin-glycoprotein complex (DGC). Until now, [...]Article
Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Benabdallah BF ; Bouchentouf M ; Tremblay J | 2005Communication n° 170. Background : Duchenne muscular dystrophy is caused by a dystrophin gene mutation. Transplantation of normal myoblasts results in long-term restoration of dystrophin. However, the success of this approach is compromised by t[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Salah N ; Millet G ; André-Schmutz I ; Desforges B ; Olaso R ; Roblot N ; Courageot S ; Bensimon G ; Cavazzana-Calvo M ; Melki J | 2005Communication n° 174 INTRODUCTION : Several studies have demonstrated that adult bone marrow-derived cells (BMDC) can participate in skeletal muscle regeneration after bone marrow transplantation (BMT). However, the mechanisms and identities of [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Gherardi RK ; Chrétien F ; Caramelle P ; Christov C ; Dreyfus P | 2005Communication n° 321 We have previously developed a murine model of bone marrow (BM) transplantation from B6-TgGFP transgenic mice to normal irradiated B6 mice, the cytoplasmic green fluorescent protein (GFP) being used as an unambiguous marker [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Sikiric P ; Staresinic M ; Novinscak T ; Batelja L ; Brcic L ; Jukic I ; Pevec D ; Kokic N ; Anic T ; Buljat G ; Zoricic I ; Perovic D ; Seiwerth S | 2005Communication n° 547. INTRODUCTION : Stable gastric pentadecapeptide BPC 157 (GEPPPGKPADDAGLV, M.W. 1419 (PL-10, PLD-116, PL 14736 Pliva, Croatia)), accelerates healing of wounds, burns as well as transected Achilles tendon and shows strong anti[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lafreniere JF ; Mills PL ; Skuk D ; Tremblay J | 2005Communication n° 302 Introduction: One problem for the clinical application of myoblast transplantation for Duchenne Muscular Dystrophy (DMD) treatment is the poor migration of transplanted cells. Recently, we described a new approach that consi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pongs O ; Schule-Bahr E ; Choe C ; Neu A ; Isbrandt D ; Schulze-Bahr E | 2005Communication n° 8 Beta-adrenergic receptor-mediated, cAMP, and protein kinase A-dependent (PKA) stimulation of select cardiac ionic currents, such as the rapid outward potassium current (IKr), controls ventricular action potential duration at h[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mège RM ; Marthiens V ; Boscher C ; Gavard J ; Lambert M | 2005Communication n° 252. We previously observed that cadherin-11, a type II cadherin, is expressed in growing motor and sensory axons in the mouse embryo. Here, we assessed its functional involvement in the regulation of axon elongation and fascicu[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laporte J ; Nicot AS ; Fares H ; Chisholm DJ ; Mandel JL ; Labouesse M | 2005Communication n° 186. Myotubular myopathy is an X-linked congenital disorder which results, in affected new-born males, in a very severe and generalized muscle weakness. The gene mutated in patients, MTM1, encodes a 3-phosphoinositides (PtdIns) [...]Article
Sommaire Accueil p1 Les centres de référence : comment mieux communiquer sur leurs missions ? p2 La communication sur les maladies rares p10 Les nouvelles fiches Orphanet à destination du grand public p16 La production d'information médic[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Chakkalakal J ; Jasmin B | 2005Communication n° 421. Introduction : We have previously shown that slow/oxidative muscle fibers contain significantly more utrophin in comparison to fast/glycolytic fibers (Gramolini et al., 2001). More recent studies have implicated calcineurin[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mazères G ; Leloup L ; Cottin P ; Brustis JJ | 2005Communication n° 443. Introduction : The calcium dependent proteolytic system, composed of ubiquitous and tissue specific calpains, is involved in many physiological events such as cell cycle, muscle cell differentiation, cell spreading and moti[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Arnaudeau S ; Holzer N ; Konig S ; Bader CR ; Bernheim L | 2005Communication n° 137. Myoblast differentiation is a strictly Ca2+-dependent process. We have shown that a main route for Ca2+ entry is through T-type Ca2+ channels. However, because of the importance of cytoplasmic Ca2+ for differentiation, myob[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Courdier-Fruh I ; Magyar JP ; Briguet A | 2005Communication n° 27 Previous studies in mdx mice indicate that upregulation of the cytoskeletal protein utrophin, a structural and functional homologue of dystrophin, offers a potential treatment strategy for Duchenne muscular dystrophy (DMD). C[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Goudenege S ; Poussard S ; Cottin P | 2005Communication n° 365. Introduction : We have previously shown that calpain promotes myoblast fusion by acting on protein kinase Ca and MARCKS (Myristoylated Alanine Rich C kinase Substrate), a protein involved in actin cytoskeleton dynamic and m[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Skuk D ; Goulet M ; Roy B ; Tremblay J | 2005Communication n° 139 Introduction : Our Myoblast Allotransplantation Studies In Monkeys Showed That The Absence Of Immunosuppression Leads To Graft Rejection In A Few Days, While A Good Immunosuppression Allows Graft Survival Apparently As Long [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ben Yaou R ; Meune C ; Bécane HM ; van Berlo JH ; Anselme F ; Eymard B ; Hannequin D ; Urtizberea JA ; Pinto YM ; Bonne G ; Duboc D | 2005Communication n° 566 Introduction : Patients with lamin A/C gene (LMNA) mutations have frequent cardiac involvement characterized by conduction defects and arrhythmias, heart failure and high frequency of sudden death (SD). While SD is not adequ[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Carrier L ; Sarikas A ; Schenke C ; Doll D ; Flavigny J ; Lindenberg K ; Eschenhagen T ; Zolk O ; Lindenberg KS | 2005Communication n° 280 Cardiac myosin binding protein C (cMyBP-C) gene mutations are a frequent cause of familial hypertrophic cardiomyopathy (FHC), and most of them result in C-terminal truncated cMyBP-Cs. However, truncated cMyBP-Cs were undetec[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pons B ; Fraley A ; Zuber G ; Behr JP | 2005Communication n° 97 The basic concept behind gene therapy is to transfer a gene into the cell nucleus and thereby express a missing protein. An alternative to treat inherited and acquired genetic disorders is the use of small oligodeoxyribonucle[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Gartioux C ; Allamand V ; Maugenre S ; Ledeuil C ; Sabatelli P ; Quijano Roy S ; Estournet Mathiaud B ; Richard P ; Pepe G ; Romero NB ; Guicheney P | 2005Communication n° 408 Ullrich congenital muscular dystrophy (UCMD) belongs to the subgroup of merosin-positive congenital muscular dystrophies. Early signs may be neonatal, such as arthrogryposis, torticollis, hip dislocation. It is characterized[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nordez A ; Cornu C | 2005Communication n° 626. Muscle stretching exercises are used for functional rehabilitation and to limit the decrease in joint flexibility induced by neuro-muscular pathologies. Nevertheless, effects of stretching are discussed and seem to depend o[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Desaphy JF ; Di Palma A ; Conte Camerino D | 2005Communication n° 259 Introduction : A number of inherited ion channelopathies are characterized by a trafficking defect of the channel protein toward the plasma membrane, resulting in a loss-of-function. A few studies have shown that the mutant [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ercelen S ; Zhang X ; Duportail G ; Babak V ; Mely Y | 2005Communication n° 659 The success of gene therapy largely relies on the availability of vectors that would deliver the genetic material efficiently to the target cells with a minimal toxicity. Although many nonviral vectors have already been prop[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bastide B ; Stevens L ; Cieniewski-Bernard C ; Bozzo C ; Heydou J ; Mounier Y | 2005Communication n° 61. Tropomyosins belong to a family of highly conserved proteins expressed in muscle and non muscle cells. Tropomyosin is a key contractile protein with two chains coiled that binds along the length of the actin filament and inv[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Avril-Delplanque A ; Rameau P ; Danos O ; Garcia L ; Dreyfus P | 2005Communication n° 184 Adult bone marrow-derived cells (BMDC) are shown to contribute to skeletal muscle regeneration. Following lethal irradiation and GFP expressing bone marrow cells transplantation, GFP+ mononucleated cells are detected among s[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ansseau E ; Sauvage S ; Laoudj-Chenivesse D ; Carnac G ; Marcowycz A ; Leroy A ; Leclercq I ; Figlewicz D ; Belayew A ; Coppée F | 2005Communication n° 517 Facioscapulohumeral muscular dystrophy (FSHD) is a dominant condition linked to partial deletions in a stretch of 3.3-kb repeated elements named D4Z4 in the 4q35 subtelomeric region. These deletions are thought to alter loca[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Thorel D ; Khau Van Kien P ; Saquet C ; Claustres M ; Tuffery-Giraud S | 2005Communication n° 153 Introduction : Duchenne muscular dystrophin (DMD) gene is the longer gene composed of 79 exons spanning 2.3 Mb on X chromosome. Recombination rates along the gene have been mostly documented for its 5' and central part (unti[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Pietri Rouxel F ; Avril A ; Gentil C ; Rameau P ; Leandri R ; Danos O ; Garcia L | 2005Communication n° 450. The used of stem cells from cell-based tissue-engineering strategies represents a promising alternative for the repair of adult tissue diseases. Like bone marrow, adipose tissue is derived from the mesenchyme and contains s[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Cisneros B ; Fuentas-Mera L ; Rodriguez-Munoz R ; Gonzalez-Ramirez R ; Mornet D | 2005Communication n° 494 Introduction. Dystrophin is an essential component in the assembly and maintenance of the dystrophin-associated protein complex (DAPC), which includes members of the dystroglycan, syntrophin, sarcoglycan and dystrobrevin pro[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Müller J ; Stucka R ; Neudecker S ; Zierz S ; Schmidt C ; Huebner A ; Lochmueller H ; Abicht A | 2005Communication n° 264 Objective : Congenital myasthenic syndromes (CMS) are caused by various genetic defects of presynaptic, synaptic and postsynaptic proteins. We report a postsynaptic CMS caused by two compound heterozygous mutations of the CH[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Malerba A ; Scambi I ; Frigo M ; Boldrin L ; Segat D ; Gamba PG ; Cavallini L ; Fano' G ; Vecchiet L ; Vitiello L ; Baroni MD | 2005Communication n° 561. Introduction : The inflammatory processes associated with traumatic damage, diseases or strenuous exercise play a key role during muscle regeneration. Many of the signals associated to muscle injury are actually exchanged b[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vihola A ; Raheem O ; Paetau A ; Haapasalo H ; Suominen T ; Kalimo H ; Udd B | 2005Communicatin n° 142 Introduction : The muscle histopathology of myotonic dystrophy type 2 (DM2) shows nuclear clump fibers, which have been considered as a hallmark of neurogenic atrophy. We have previously shown that these and other extremely s[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Poulas K ; Sideris S ; Tsiamalos P ; Kostelidou K ; Stergiou C ; Kordas G ; Tzartos SJ | 2005Communication n° 488 Muscle acetylcholine receptor (AChR), the autoantigen in myasthenia gravis, is difficult to be produced in large amounts as an intact molecule. We have successfully expressed soluble extracellular domains (ECDs) of ?, ?, ? a[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lafreniere JF ; Mills PL ; Tremblay J | 2005Communication n° 301 Introduction : Transplantation of myogenic cells is the only treatment that could reconstitute the satellite cell population of the muscle and introduce normal genes in pre-existing myofibers. One major problem that contribu[...]Article
MacIntyre NR ; Epstein SK ; Carson SA ; Scheinhorn D ; Christopher K ; Muldoon S | 2005Accès au résumé PubMed / to PubMed abstractArticle
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; de Luca A ; Pignol B ; Burdi R ; Di Donna M ; Rolland JF ; Conte Camerino D | 2005Communication n° 147 Introduction : An enhanced activity of calcium-dependent calpains and inflammation-related oxidative stress may contribute to dystrophin-deficient myofiber degeneration. Objective : To evaluate the benefit of an in-vivo trea[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Brenner T ; Hamra-Amitay Y ; Sicsic C ; Berrih-Aknin S | 2005Communication n° 106 Myasthenia gravis is an antibody-mediated, autoimmune neuromuscular disease in which the nicotinic acetylcholine receptor (AChR) is the major autoantigen. The typical neuromuscular junction symptoms can be transiently allevi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Blumen S ; Reches A ; Argov Z ; Sadeh M ; El Ad B ; Balash Y ; Groozman G ; Inzelberg R ; Carasso R ; Nisipeanu P ; Drory V | 2005Communication n° 9 Objective : To assess the demographic and clinical features predicting a benign course in patients presenting with isolated amyotrophy of hands. Background : Patients with a clinical presentation of distal amyotrophy of arms a[...]Article
Vicart P, Auteur ; Goudeau B ; Rodrigues-Lima F ; Fischer D ; Casteras-Simon M ; Fardeau M ; Goldfarb L | 2005Communication n° 444. Clinical, molecular and functional study of missense mutations in desmin 2B and tail domains. Goudeau B.(1); Rodrigues-Lima F(1,2).; Fischer D.(1,3); ,Casteras-Simon M.(1,2); Fardeau M(5). Goldfarb L.(4) and Vicart P.(1,2)[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Minot A ; Haftek Z ; Malbouyres M ; Thisse B ; Le Guellec D ; Thisse C ; Ruggiero F | 2005Communication n° 655. Development and function of muscle are controlled by a large number of soluble factors and require multiple interactions with the components of the extracellular matrix, which composition and functional properties differs d[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Manceau V ; Gros J ; Thomé V ; Marcelle C | 2005Communication n° 213. SUMMARY In the embryo and in the adult, skeletal muscle growth is dependent upon the proliferation and the differentiation of muscle progenitors present within muscle masses. Despite their prime importance, their embryonic [...]Article
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; El Euch-Fayache G ; Zouari M ; Amouri R ; Kefi M ; Hentati F | 2005Communication n° 526 Background : Autosomal cerebellar ataxia (ACA) is a genetically heterogenous group of neurodegenerative disorders. Friedreich ataxia (FA; 9q13), Ataxia with Vitamin E Deficiency (AVED; 8q13), Autosomal Recessive Spastic Atax[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nordez A ; Cornu C | 2005Communication n° 633. Neuro-muscular pathologies induce a decrease in musculo-articular flexibility and changes in viscoelastic properties of a musculo-squeletal complex. During a stretch, passive mechanical behavior of such a complex is quantif[...]Article
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Environ 80 chercheurs ont participé à cette édition, où étaient également invités des représentants de la commission européenne et des sociétés Myosix et Invitrogen. Le réseau d'excellence Myores, coordonné par l'Inserm et managé par Inserm-Tran[...]Article
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Conférence européenne sur les maladies rares (21-22 Juin 2005; Luxembourg) ; EURORDIS | Luxembourg : EURORDIS | 2005Ce document est la traduction relue et corrigée du rapport anglais de la conférence. Malgré tous nos soins, des erreurs peuvent apparaître. La version anglaise est la version de référence.Article
Yu H, Auteur ; Ishigaki K ; Shimahara T ; Bournaud R ; Le Poupon C ; Prado de Carvalho L ; Corringer PJ ; Fardeau M ; Koenig J ; Eymard B ; Hantaï D | 2005Communication n° 253 : Congenital myasthenic syndromes (CMS) are a group of rare genetic disorders that affect neuromuscular transmission. Most of the CMS are caused by mutations of the nicotinic acetylcholine receptor (nAChR) in skeletal muscl[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Sasso A ; Paucic-Kirincic E ; Lah-Tomulic K ; Gazdik M | 2005Communication n° 18 Congenital myasthenic syndrome with episodic apnea (CMS-EA) is a presynaptic disorder of neuromuscular junction. CMS-EA manifests at birth or early infancy. The clinical signs of the disease are ptosis, intermittent hypotonia[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nouioua S ; Sifi Y ; Hecham N ; Ali Pacha L ; Richard P ; Grid D ; Hamri A ; Tazir M | 2005Communication n° 440 Introduction : Mutations in various genes expressed at the neuromuscular junction cause congenital myasthenic syndromes (CMS). Currently their classification is physiopathological, implicating 8 genes. Post-synaptic congenit[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Richard P ; Gaudon K ; Haddad H ; Koenig J ; Bauche S ; Grid D ; Gouider-Khouja N ; Mayer M ; Desnuelle C ; Pouget J ; Hentati F ; Eymard B ; Hantaï D | 2005Communication n° 235. Background: Congenital myasthenic syndromes (CMS) are hereditary disorders characterised by a defect in the neuromuscular transmission. Most cases showed recessive mode of inheritance and molecular analyses have shown that [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nowak K ; Sewry C ; Navarro C ; Reina C ; Muntoni F ; Laing N | 2005Communication n° 178. INTRODUCTION Dominant and recessive mutations have been identified in the skeletal muscle alpha actin gene (ACTA1). Previously, one child from a consanguineous French Gypsy kindred has been described who was homozygous for [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ben Yaou R ; Navarro C ; Massart C ; Demay L ; Richard P ; de Sandre-Giovannoli A ; Quijano Roy S ; Leroy JP ; Butler-Browne GS ; Estournet Mathiaud B ; Bonne G ; Barois A | 2005Communication n° 568 Introduction Mutations in LMNA encoding Lamins A/C are responsible of several disorders named laminopathies involving striated muscles as well as adipose, nervous, cutaneous and skeletal tissues. Mutations in FACE1, encoding[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Alameddine HS ; Morgan J ; Bausero P ; Gross J | 2005Communication n° 377 A soluble and membrane-bound metallo-endopeptidase activity has been shown to be involved in myoblast fusion (Couch and Stritmatter 1983, and 1984). Furthermore, MMP-2 and MMP-9 activation and regulation during skeletal musc[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lunardi J ; Monnier N ; Kozak-Ribbens G ; Krivosic-Horber R ; Nivoche Y ; Payen JF ; Figarella-Branger D ; Mezin P ; Romero NB ; Maclennan D | 2005Communication n° 335 Malignant hyperthermia susceptibility (MHS) is a sub clinical pharmacogenetic disorder caused by an impairment of skeletal muscle calcium homeostasis in response to triggering agents. MHS involve two calcium channels located[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Eliat PA ; Nguyen F ; Pinot M ; Franconi F ; Lemaire L ; Cherel Y | 2005Communication n° 287. Introduction : Magnetic resonance imaging (MRI) has been used to study in vivo anatomy and water content of dystrophin-deficient skeletal muscle in the murine model (mdx) of Duchenne Muscular Dystrophy. Data are however lac[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jouvion G ; Rouger K ; Fornasari B ; Bougras G ; Goubault-Leroux I ; Primault R ; Segalen J | 2005Communication n° 297. The ability of skeletal muscle to repair and regenerate itself after injury has been ascribed to satellite cells (SC), a subpopulation of undifferentiated mononuclear cells that reside in the tissue. However, other progenit[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Feferman T ; Cizeron-Clairac G ; Fuchs S ; Souroujon M ; Berrih-Aknin S | 2005Communication n° 448 Myasthenia Gravis (MG) is an autoimmune disease mediated by antibodies directed against the acetylcholine receptor (AChR), which are found in about 85% of patients. Autoimmune experimental MG (EAMG) can be induced in rats by[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Charland L ; Lavoie J ; Puymirat J | 2005Communication n° 119 Use of databases (DB) for managing neuromuscular diseases (NMD) data is an impressive tool for physicians and researchers. We have developed a DB on an Oracle platform. Oracle has a solid architecture witch is only limited b[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; 't Hoen PAC ; Sterrenburg E ; van der Wees C ; White S ; Turk R ; de Menezes R ; van Ommen G ; den Dunnen J | 2005Communication n° 439. Duchenne Muscular Dystrophy (DMD) is a lethal disease characterized by progressive muscle weakness and wasting. Despite the sustained presence of satellite cells in their skeletal muscles, muscle regeneration is inefficient[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Morel JL ; Rakotoarisoa I ; Mironneau J | 2005Communication n° 135. It is generally believed that alterations of calcium homeostasis play a key role in skeletal muscle atrophy and degeneration observed in Duchenne's muscular dystrophy and mdx mice. Mechanical activity is also impaired in ga[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Colomer J ; Müller JS ; Nascimiento A ; Vernet A ; Lochmuller H | 2005Communication n° 188 Introduction: The majority of postsynaptic congenital myasthenic syndromes (CMS) result from deficiency of acetylcholine receptors (AChR) at the endplate, due to mutations of the gene encoding the epsilon subunit of the AChR[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Girard C ; Neel H ; Bertrand E ; Bordonne R | 2005Communication n° 654 Neuronal degeneration in spinal muscular atrophy (SMA) is caused by reduced expression of the survival of motor neuron (SMN) protein. The SMN protein is ubiquitously expressed and is present both in the cytoplasm and in the [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Orcesi S ; Rossi M ; Gorni K ; Berardinelli A ; Beghi E ; Angelini C ; Bertini E ; Pini A ; Palmucci L ; Mercuri E ; Lanzi G | 2005Communication n° 196 Introduction : One of the major goals both in the general management of Neuromuscular Disorders (NMDs) and in therapeutic trials is increasingly recognized as the improvement or at least prevention of worsening of heath-rela[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Solly S ; Herson S ; Klatzmann D ; Benveniste O | 2005Communication n° 725. Introduction : Polymyositis (PM) is characterised by a proximal muscle weakness and a muscular infiltrate made by macrophages and cytotoxic CD8+ T lymphocytes. Without treatment mortality is up to 70 percent. The basis of t[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; El Fahime E ; Benabdallah BF ; Tremblay J | 2005Communication n° 169 Therapies are currently investigating the use of the newly identified pluripotent muscle derived stem cells (MDSCs), as a possible cell-mediated therapy, in order to repopulate the dystrophic muscles. The existence of MDSCs,[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Martin N ; Dutertre M ; Auboeuf D | 2005Communication n° 688. Introduction : Important efforts are currently done to identify mutations associated with genetic neuromuscular diseases. Classically, most of the interest is focused in the coding regions of the genes, even if we know that[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Hackman P ; Pelin K ; Monni O ; Auvinen P ; Udd B | 2005Communication n° 468. Introduction : Tibial muscular dystrophy TMD/LGMD2J is caused by mutations in the TTN gene. Due to its huge size (363 exons encoding 38,138 amino acid residues), the search for new mutations can be a very laborious task usi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Routledge S ; Sterrenburg E ; van der Maarel SM ; Antoniou M | 2005Communication n° 491 INTRODUCTION : Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset disease caused by the expansion of an alanine (ala) tract at the N terminus of the nuclear poly(A)-binding protein (PABPN1) from 1[...]Article
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Rolland JF ; Burdi R ; Giannuzzi V ; Liantonio A ; Conte Camerino D ; de Luca A | 2005Communication n° 162. Introduction : The mechanisms underlying the high sarcolemmal permeability to Ca2+ and the perturbed Ca2+ homeostasis in muscle fibers of dystrophic mdx mouse are still debated. Objective. To perform a biophysical and pharm[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ben Sassi S ; Amouri R ; Kefi M ; Hentati F | 2005Communication n° 535 Inter- and intrafamilial phenotypic heterogeneity has been reported in LGMD2C and in sarcoglycanopathies in general. This clinical variability has been related to modifying gene(s) or to environmental factors. We report a pa[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Duval C ; Camara Y ; Villarroya F | 2005Communication n° 428. Skeletal muscle can undergo apoptosis as a post-mitotic tissue both in response to specific physiological stimuli or in pathological processes. Acquisition of an apoptosis-resistant status is part of differentiation program[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nancy P ; Berrih-Aknin S | 2005Communication n° 505 Myasthenia gravis (MG) is an autoimmune disease associated with thymic hyperplasia, and is much more prevalent in women than in men. In this study we investigated potential changes in estrogen receptor (ER) expression in thy[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Olaso R ; Joshi V ; Fernandez J ; Bonnefont JP ; Roblot N ; Courageot S ; Melki J | 2005Communication n° 254 Spinal Muscular Atrophy (SMA) is a frequent autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons and caused by mutations of the SMN gene. SMN is thought to be involved in RNA metabolism. [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Frenkian-Cuvelier M ; Boneva N ; Clairac G ; Bidault J ; Berrih-Aknin S | 2005Communication n° 512 The Aquired Autoimmune Myasthenia Gravis (MG) is characterized by 3 immunological entities : seropositive MG (SPMG), seronegative MG (SNMG) and MuSK+. Despite the different immunological profile, all MG patients present the [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Charvet C ; Sotiropoulos A ; Houbron C ; Parlakian A ; Bertrand A ; Lahoute C ; Schmidt A ; Renou L ; Melki J ; Paulin D ; Li Z ; Daegelen D ; Tuil D | 2005Communication n° 497. SRF is a transcriptional factor involved in both cell growth and muscle-specific gene expression. Our previous data obtained in cultured muscle cells showed that SRF is needed for myoblasts differentiation. Classical disrup[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Marston S ; Messer A ; Mirza M ; Watkins H ; Redwood C ; Robinson P | 2005Communication n° 245 In failing heart muscle there is a defect in contractility due to dysfunction of the contractile apparatus. In previous studies we identified a specific functional defect in the thin filament regulatory protein troponin extr[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Fleurance R ; Rouger K ; Guigand L ; Le Rumeur E ; Cherel Y | 2005Communication n° 295. In the membrane of healthy animals, dystrophin is associated with a complex named dystrophin-glycoprotein complex. This complex seems to be absent in dystrophin-deficient animals or humans Aim : Assess the consequences of d[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Esquivel-Solís H ; Perez-Carreon JI ; Fattel-Fazenda S ; Martinez-Perez F ; Villa-Trevino S ; Martinez-Rojas D | 2005Communication n° 163 The Dp71 associated protein complex (Dp71~DAPC) has been implicated in cell adhesion, differentiation and embryonic development. Moreover, the DAPC members, who connect the extracellular matrix to the cytoskeleton, a- and b-[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Garces A ; Ohayon D ; Mechaly I ; Valmier J ; Carroll P | 2005Communication n° 721. We still have a rather primitive understanding of the molecular mechanisms that underlie vertebrate sensory-motor system establishment, physiology and physiopathology. Although a series of novel techniques have been develop[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Chartier A ; Simonelig M | 2005Communication n° 637. Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease characterized by eyelid drooping, swallowing difficulties and limb weakness. OPMD results from dominant mutation (GCG triplet expansions) in the poly(A) bind[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Marti I ; Demeer B ; Angeard N ; Ben Yaou R ; Daoud F ; Saillour Y ; Récan D ; Heron D ; Rivier F ; Desguerre I ; Tuffery S ; Cossee M ; Leturcq F ; Cuisset JM ; Kaplan JC ; Chelly J | 2005Communication n° 527 Duchenne and Becker muscular dystrophinopathies (DMD and BMD) are allelic X-linked diseases characterized by progressive muscular degeneration, responsible for muscle weakness, and associated with cognitive impairment in app[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Freixas A ; Gallardo E ; de Luna N ; Bautista J ; Marquez C ; Pardo J ; Pou A ; Vilchez J ; Rodriguez MJ ; Baiget M ; Illa I ; Gallano P | 2005Communication n° 394 Mutations in dysferlin gene (DYSF) cause different muscular dystrophy phenotypes including Limb Girdle Muscular Dystrophy 2B (LGMD2B), Miyoshi Myopathy (MM) and Distal Anterior Compartment myopathy (DAT). These disorders are[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Petrucci TC ; Ceccarini M ; Torreri P ; Bernassola M ; Macchia G ; Macioce P | 2005Communication n° 348. b-Dystrobrevin is a member of the dystrophin-related and -associated protein family, highly expressed in brain, lung and kidney. In brain b-dystrobrevin is highly enriched at the postsynaptic membrane in hippocampal and Pur[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Bogdanik L ; Mornet D ; Bockaert J ; Parmentier Ml ; Grau Y | 2005Communication n° 651 Many muscular dystrophies result from a weak muscle membrane linkage mediated through dystrophin associations with transmembrane proteins such as dystroglycan (DG). Then this dystrophin-dystroglycan complex is essential for [...]Article
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Cette 6e édition a eu lieu sous la présidence conjointe des professeurs M. Fardeau et H. Sugita. Elle marque un tournant vers les thérapeutiques et a permis de nombreux échanges entre les deux communautés de chercheurs. Bref rappel histori[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Le Rumeur E ; Pottier S ; Gaboriau F ; Hardy S | 2005Communication n° 87. Dystrophin is the protein genetically deficient in Duchenne Muscular Dystrophy (DMD). Its C-and N-terminal ends interact with several cytoskeletal and membrane proteins, thus establishing a link between the cytoskeleton and [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Keyhani E ; Kahrizi K ; Shafeghati Y ; Azimi P ; Darabi E ; Najmabadi H | 2005Communication n° 434 Introduction : Duchenne Muscular Dystrophy (DMD)is one of the most lethal forms of muscular dystrophies. In Iran, despite the high frequency of the disease, there was no laboratory facilities to detect the disease till thirt[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mongue-Din H ; Salmon A ; Fiszman M ; Fromes Y | 2005Communication n° 201 Familial myopathies are due to primary molecular alterations of striated skeletal and cardiac cells. During cardiomyopathies evolution, patients develop secondary alterations characterized by an abnormal cardiac electric act[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Carmignac V ; Quijano Roy S ; Urtizberea JA ; Eymard B ; Romero NB ; Campbell K ; Morandi L ; Bertini E ; Salih M ; Guicheney P ; Estournet Mathiaud B ; Ferreiro A | 2005Communication n° 520 Salih Congenital Muscular Dystrophy (Salih CMD) was described in 1998 in two brothers presenting with neonatal hypotonia, axial and proximal weakness and severe dilated cardiomyopathy leading to death in adolescence. The gen[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vandebrouck C ; Basset O ; Ducret T ; Sebille S ; Raymond G ; Gailly P ; Cognard C ; Constantin B | 2005Communiation n° 215 Duchenne Muscular Dystrophy results from the lack of dystrophin, a cytoskeletal protein associated with the inner surface membrane, in skeletal muscle. The absence of dystrophin induces an abnormal increase of sarcolemmal cal[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Treves S ; Ducreux S ; Muller C ; Muntoni F ; Sewry C ; Quinlivan R ; Girard T ; Zorzato F | 2005Communication n° 12. Introduction and objectives : More than 60 mutations in the skeletal muscle RYR1 gene have been identified and associated with Malignant Hyperthermia (MH) and Central Core Disease (CCD). Most MH-linked mutations are localise[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Ollivier K ; Hogrel JY ; Gomez-Merino D ; Leroy-Willig A ; Ait Ahmed M ; Berkani M ; Doppler V ; Chevrot M ; Laforet P ; Eymard B ; Portero P | 2005Communication n° 281. Introduction : McArdle's disease is a metabolic myopathy of genetic origin. It is characterised by a severe effort intolerance due to myophosphorylase deficiency. Patients present, often from childhood, an excessive fatigue[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Berrih-Aknin S ; Poëa-Guyon S ; Christadoss P ; Le Panse R ; Guyon T ; Bidault J ; Tzartos SJ | 2005Communication n° 590 Myasthenia gravis (MG) is an autoimmune disease associated with thymic pathologies, including hyperplasia. In this study we investigated the processes that may lead to thymic overexpression of the triggering antigen, the ace[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Cazorla O ; Szilagyi S ; Vignier N ; Kulikovskaya ; Winegrad S ; Vassort G ; Carrier L ; Lacampagne A | 2005Communication n° 551. b-adrenergic stimulation modulates cardiac contractility through protein kinase A (PKA), which phosphorylates cellular proteins, such as cardiac troponin I (cTnI) and cardiac C-protein (cMyBP-C). The relative contributions [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vignaud A ; Caruelle JP ; Martelly I ; Ferry A | 2005Communication n° 376. Introduction : Concerning skeletal muscle regeneration, little information exists on differences between animal strains, long-term recovery, or differences between rapidly growing and adult animals. Such data should provide[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laforet P ; Hammouda EH ; Hogrel JY ; Attarian S ; Ollivier G ; Doppler V ; Pouget J ; Desnuelle C ; Payan C | 2005Communication n° 754 Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent inherited neuromuscular disorder, with autosomal dominant transmission. This disorder is slowly progressive, involving preferentially th[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Goncalves M ; Holkers M ; Cudre-Mauroux C ; van Nierop GP ; Knaan-Shanzer S ; Valerio D ; de Vries A | 2005Communication n° 293 Introduction : Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene, making it amenable to gene- or cell-based therapies. Another possible treatment entails the combination of both principles by tr[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Arvieux CC ; Pennec JP ; Guéret G ; Metges MA ; Rossignol B ; Dorange G ; Gioux M | 2005Communication n° 458 Introduction : Critical illness polyneuropathy (CIP) remains to be delineated since it includes several nervous and muscular entities occurring after a sepsis in critically ill patients. Few data are available on the cellula[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Auda-Boucher G ; Rouaud T ; Lafoux A ; Huchet-Cadiou C ; Fontaine-Perus J ; Gardahaut M | 2005Communication n° 249. We previously demonstrated that CD34+/Flk1+ vascular endothelial cells from the mouse embryonic muscles (17d.p.c.) have the ability to predominantly differentiate in vitro into skeletal muscle lineage and to restore dystrop[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; McVie-Wylie AJ ; Rogers C ; Thurberg BL ; Zhang M ; Madden S ; Klinger K ; O'Callaghan M ; Andrews L ; Mattaliano R | 2005Communication n° 579 Pompe disease is an autosomal recessive neuromuscular disorder of lysosomal glycogen metabolism resulting from deficiency of the enzyme acid alpha-glycosidase (GAA). A GAA knockout mouse model has been generated in which the[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Martinez Perea de Posadas M ; Multicenter Study S ; Many Hospital,Multicenter S | 2005Communication n° 90 INTRODUCTION : About 0.2 % of the disabled population suffer from an inherited Neuromsucular Disorders (NMD). There are no current data about Neuromuscular Diseases Incidence in our country.Each entity presents relative frequ[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jory A ; Tajbakhsh S | 2005Communication n° 484. Muscle Progenitor Cells (MPCs; Myf5+) and their ancestors in mice are born in the dorsal (epaxial) and ventral (hypaxial) lips of the somite dermomyotome (DM) epithelium. Pax3 and Pax7 mark essentially all cells in the DM. [...]Livre
Voir aussi le compte rendu en français téléchargeable à partir de la référence dont le titre est : Conférence européenne sur les maladies rares.Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Davoust J ; Ginhoux F ; Turbant S ; LeBoeuf MB ; Gross D ; Lemonnier F ; Goyenvalle A ; Garcia L ; Danos O | 2005Communication n° 668 Cellular immune responses may compromise long-term expression in Dystrophin-based gene therapy treatments. To predict cytotoxic T-cell responses mediated by dystrophin (DYST), we designed a new H-2-negative HLA-A*0201 transg[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Quenneville SP ; Chapdelaine P ; Calos M ; Tremblay J | 2005Communication n° 425 Introduction : Duchenne Muscular Dystrophy (DMD) is the most severe muscular dystrophy. It is caused by the absence of dystrophin in muscle fibers. This absence leads to increased muscle damage. Myogenic cell transplantation[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Authier FJ ; Sauvat S ; Christov C ; Chariot P ; Raisbeck G ; Poron MF ; Dreyfus PA ; Yiou F ; Gherardi RK | 2005Communication n° 398 Macrophagic myofasciitis (MMF) is a specific histopathologic lesion, characterized by accumulations of both MHC-1 antigen-expressing macrophages and CD8+T-cells in muscle and fascia. MMF assesses persistence of aluminum hydr[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; della Gaspera B ; Sequeira I ; Chanoine C | 2005Communication n° 362. We have cloned and sequenced the two full length Xenopus laevis XMRF4a and XMRF4b cDNAs respectively coding for two polypeptides of 239 and 240 amino acid residues. These two mRNA are expressed at different levels during em[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Buj Bello A ; Pierson CR ; Monroy-Munoz N ; Hindelang C ; Kretz C ; Duval G ; Pellissier JF ; Butler-Browne GS ; Beggs AH ; Laporte J ; Mandel JL | 2005Communication n° 299. Myotubularin is a phosphoinositide phosphatase with an essential function in skeletal muscle. It is encoded by the MTM1 gene which, when mutated, leads to X-linked myotubular myopathy in humans and a progressive centronucle[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Thuries L ; Winder SJ ; Savarin P ; Le Saint N ; Clocheau S ; Chea V ; Toma F ; Curmi PA | 2005Communication n° 472 Introduction : Mutations in the dystrophin gene, which result either in the absence or alterations of dystrophin, may cause Duchenne muscular dystrophy. An understanding of the molecular pathogenesis of this disease depends [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Israeli D ; Ziaei S ; Gjata B ; Benchaouir R ; Rameau P ; Gonin P ; Danos O ; Garcia L | 2005Communication n° 91. In a recent study conducted in our laboratory we have identified and sorted "side population" (SP) cells from myoblast cultures. In addition to the presentation of the SP phenotype these cells presented other features in com[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Israeli D ; Ziaei S ; Gjata B ; Benchaouir R ; Rameau P ; Gonin P ; Danos O ; Garcia L | 2005Communication n° 695. In a recent study conducted in our laboratory we have identified and sorted "side population" (SP) cells from myoblast cultures. In addition to the presentation of the SP phenotype these cells presented other features in co[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Jokic N ; Gonzalez De Aguliar J ; Pradat PF ; Dupuis L ; Echaniz-Laguna A ; Muller A ; Dubourg O ; Seilhean D ; Hauw JJ ; Loeffler JP ; Meininger V | 2005Communication n° 673 INTRODUCTION : We demonstrated that Nogo isoforms (Nogo-A, Nogo-B, Nogo-C) exhibit a specific pattern of expression in the skeletal muscle of mutant Cu/Zn-superoxide dismutase (SOD1G86R) transgenic mice and patients with spo[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Betto R ; Sandona D ; Danieli-Betto D ; Germinario E ; Biral D ; Martinello T ; Gastaldello S | 2005Communication n° 338. Evidence indicates that extracellular ATP may have relevant functions in skeletal muscle, even though the physiological role and distribution of specific signalling pathway elements is not well known. Normally, ATP is relea[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Winder S | 2005Communication n° 22. Dystroglycan is part of an adhesion receptor complex linking the extracellular matrix to the actin cytoskeleton. Previous studies have implicated dystroglycan in basement membrane formation and as a crucial link between dyst[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Lesca G ; Testard H ; Streichenberger N ; Pélissier JF ; Burel E ; Jonveaux P ; Michel-Calemard L | 2005Communication n° 237 Introduction : In frame deletions of exons encoding the central rod domain of dystrophin have been associated with a highly variable phenotype, including asymptomatic individuals. Cae report - We report on a 4-year-old child[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Dodille M ; Desnuelle C ; Rossi B | 2005Communication n° 549. In response to skeletal muscle damage satellite cells migrate towards the injured area, proliferate, fuse with each other to form myotubes and mature into myofibers. This process involves a complex set of interactions betwe[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Grey C ; Méry PF | 2005Communication n° 34 Mutations of genes encoding ionic channels or contractile proteins are responsible for familial hypertrophic cardiomyopathies. Understanding the process of differentiation of cardiomyocytes carrying a mutated protein is a cru[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Skuk D ; Goulet M ; Roy B ; Piette V ; Côte C ; Hogrel JY ; Bouchard JP ; Lachance JG ; Sylvain M ; Tremblay J | 2005Communication n°2 Introduction : Following a similar protocol as we used in monkeys, we observed that myoblast transplantation (MT), tested in only 1cm3 of muscle, systematically restored the expression of normal dystrophin in myofibers of DMD p[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Authier FJ ; Plonquet-Bourguin A ; Bassez G ; Chrétien F ; Gherardi RK | 2005Communication n° 325 Idiopathic inflammatory myopathies mainly include dermatomyositis, polymyositis, and inclusion body myositis. In PM and IBM, clonally expanded cytotoxic CD8 T-cells infiltrate muscle and are directed against MHC-I antigens e[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Kuntzer T ; Carrera E ; Lobrinus A ; Spertini O ; Gherardi R ; Janzer R | 2005Communication n° 267 We report an unusual patient who developed a rare form of subcutaneous cytophagic histocytic panniculitis (CHP) associated with a focal inflammatory myopathy with abundant macrophages (IMAM) 18 months after the onset of a tr[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Molenaar PC ; Ter Beek P ; Wintzen AR ; Verschuuren J ; Vincent A | 2005Communication n°369 The objective was to develop a mouse model for studying the pathophysiology of myasthenia gravis patients with auto-antibodies to MuSK, a tyrosine kinase receptor responsible for clustering of acetylcholine receptors (AChRs) [...]Article
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Laporte J ; Tosch V ; Monroy-Munoz N ; Biancalana V ; Kretz C ; Beggs A ; Zanoteli E ; Wallgren-Pettersson C ; Bertini E ; Merlini L ; Bomme-Ousager L ; Kress W ; Mandel JL | 2005Communication n° 255. The myotubularin gene family is one of the largest groups within the tyrosine/dual-specificity phosphatase super-family. Among the 14 human members, three are mutated in genetic diseases: X-linked myotubular myopathy (XLMTM[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Berrih-Aknin S ; Balandina A ; Lecart S ; Dartevelle P ; Saoudi A | 2005Communication n° 454 Thymus-derived CD4+CD25+ regulatory T (Treg) cells are essential for the maintenance of immunologic self-tolerance. Despite their critical role in the active suppression of experimental autoimmune disorders, little is known [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Renvoisé B ; Khoobarry K ; Gendron MC ; Cibert C ; Lefebvre S | 2005Communication n° 383 Mutations of the survival motor neuron (SMN1) gene are responsible for reduced levels of SMN protein causing SMA disease. The ubiquitous SMN protein is part of a large multiprotein complex that participates to the assembly o[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Boneva N ; Cuvelier M ; Bidault J ; Brenner T ; Berrih-Aknin S | 2005Communication n° 480 Introduction : MuSK positive (MuSK+) myasthenia gravis (MG), representing approximately 40% of the patients with seronegative MG (SNMG) is more severe disease, affecting predominantly the neck, bulbar and respiratory muscles[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Frigeri A ; Cogotzi L ; Camassa L ; Mola M ; Brancaccio A ; Nicchia P ; Svelto M | 2005Communication n° 263. Aquaporin-4 (AQP4) is the major neuromuscular water channel whose function in normal physiology is still unclear. To study the physiological role of AQP4 as well as its possible involvement in the DMD pathology, a plasma me[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mattéotti C ; Gerbaux C ; Willocq J ; D'Amico E ; Belayew A ; Coppée F | 2005Communication n° 452 The FSHD candidate gene (DUX4) we propose maps within each of the D4Z4 units repeated in tandem at 4q35. An homologous DUX4c gene is located in a single truncated D4Z4 element 42 kb centromeric of the D4Z4 array. The DUX4 an[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Divet A ; Grasso C ; Paesante S ; Cavagna A ; Tiveron C ; Treves S ; Zorzato F | 2005Communication n° 415. The sarcoplasmic reticulum (SR) contains major proteins that control the intracellular Ca2+ concentration and play an important role in excitation-contraction coupling mechanism (ECC). Several less abundant components have [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Haskins M ; Milszewski J ; Aleman D ; O'Donnell P ; Cullen K ; Traas A ; Werner P ; Henthorn P ; Vite C | 2005Communication n° 133. INTRODUCTION : 1. Chloride channel (ClC-1) myotonia congenita in miniature schnauzer dogs has a delay in skeletal muscle relaxation following stimulation, diffuse skeletal muscle hypertrophy, stridor, and a stiff gait that [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Desforges B ; Courageot S ; Roblot N ; Aubert S ; Melki J | 2005Communication n° 262 Spinal muscular atrophy (SMA) is a frequent recessive autosomal neuromuscular disorder characterized by the degeneration of spinal motor neurons (MN) associated with muscle paralysis and atrophy. Mutations of the survival of[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Seiwerth S ; Staresinic M ; Novinscak T ; Batelja L ; Brcic L ; Jukic I ; Pevec D ; Kokic N ; Anic T ; Buljat G ; Zoricic I ; Perovic D ; Sikiric P | 2005Communication n° 540. INTRODUCTION : Stable gastric pentadecapeptide BPC 157 (GEPPPGKPADDAGLV, M.W. 1419 (PL-10, PLD-116, PL 14736 Pliva, Croatia)), accelerates healing of wounds, burns as well as transected Achilles tendon and shows strong anti[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Francius C ; Pleau-Varet J ; Nardelli J | 2005Communication n° 680. Several classes of neurons are generated from neuronal progenitors along the dorso-ventral axis of the spinal cord and are defined according to the expression of specific gene combinations. GATA2, a zinc finger transcriptio[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Carle T ; Fontaine B ; Devuyst O ; Lhuillier JM ; Luce S ; Sternberg D ; Tabti N | 2005Communication n° 473 Hypokalemic periodic paralysis (hypoPP) is a dominantly inherited skeletal muscle disease characterized by attacks of flaccid weakness accompanied by hypokalemia. This disease has been associated with missense mutations in t[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Eisenberg I ; Shefi N ; Itshaki Z ; Kang P ; Kho A ; Jacob-Hirsch J ; Argov Z ; Sadeh M ; Dabby R ; Kunkel L ; Mitrani-Rosenbaum S | 2005Communication n° 442 Introduction. Hereditary Inclusion Body Myopathy (HIBM) is a unique group of adult onset neuromuscular disorders characterized by slowly progressive distal and proximal muscle weakness and typical muscle pathology including [...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Magot A ; Le Cunff M ; Le Meur N ; Mussini JM ; Delecrin J ; Hamel A ; Leger JJ ; Pereon Y | 2005Communication n° 476. Background: Duchenne muscular dystrophy (DMD) pathophysiology is a complex process involving many pathways downstream of the primary biochemical insult. In comparison, the mechanisms implicated in muscle aging are also part[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Viollet L ; Toutain A ; Guyant-Marechal L ; Laroche C ; Pedespan JM ; Fouquet B ; Lacombe D ; Maystadt I ; Saugier-Veber P ; Munnich A | 2005Communication n° 578 Spinal muscular atrophies (SMA) are characterized by progressive anterior horn cell degeneration, leading to motor weakness, muscular atrophy and denervation. Numerous SMA phenotypes have been reported, differing by the dist[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Vu Manh TP ; Georgenthum E ; Sémériva M ; Piovant M ; Röder L | 2005Communication n° 548. Familial Hypertrophic cardiomyopathy (FHC) is a monogenic disorder inherited in an autosomal-dominant fashion. FHC is related to mutations in at least 13 human genes, including MYBPC3 encoding the human cardiac myosin bindi[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Stum M ; Girard E ; Davoine CS ; Molgo J ; Tabti N ; Willer JC ; Fontaine B ; Krejci E ; Nicole S | 2005Communication n° 640. Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive human disease. Patients suffer from functional handicap with myotonia and chondrodystrophy that appear during chidlhood. We previously demonstrated that SJS was d[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Mariol MC ; Carré-Pierrat M ; Ségalat L | 2005Communication n° 46. Dystrophin is the product of the gene mutated in the Duchenne muscular dystrophy, a neuromuscular disease leading to muscle necrosis. The function of the dystrophin protein is not known. In mammals, dystrophin is located und[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Fendri K ; Amouri R ; Hentati F | 2005Communication n° 532 Background : The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (LGMD2) characterised by mutations in genes encoding one of sarcoglycan subunit. Mutations in SGCA, SGCB, SGCG, and SGC[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Luce S ; Sternberg D ; Fontaine B ; Tabti N | 2005Communication n° 395 Periodic paralysis are inherited skeletal muscle disorders caused by missense mutations of genes encoding the ? subunits of the skeletal muscle voltage-gated Na+ or Ca2+ channels. A missense variant of KCNE3 gene encoding a [...]