Détail du congrès:
Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
Commentaire :
AFM
|
Documents disponibles provenant de ce congrès (565)
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Galy A | 2008Clinical gene therapy studies have demonstrated the immunogenicity of AAV vectors since neutralizing antibodies and cytolytic T-cell responses have been elicited against the capsid, in some patients. For further clinical development, the immunog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Filosto M ; Tonin P ; Vattemi G ; Scarpelli M ; Baronchelli C ; Broglio L ; Tentorio M ; Padovani A ; Tomelleri G | 2008External ophthalmoplegia (EO), although often present in various neuromuscular diseases, is not usually observed in muscular dystrophies except for oculopharyngeal muscular dystrophy. We report on 37-year-old man, healthy until age 25, affected [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Uzenot D ; Delmont E ; Attarian S ; Verschueren A ; Boucraut J ; Azulay JP ; Pouget J | 2008The objective of this study was to determine clinical, electrophysiological and biological characteristics of chronic sensory ataxia associated with anti-GD1b IgM antibodies. Anti-GD1b antibodies had been associated with acute and chronic sensor[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Behin A ; Stojkovic T ; Claeys K ; Laforet P ; Dubourg O ; Maisonobe T ; Fournier E ; Ferreiro A ; Bécane HM ; Wahbi K ; Duboc D ; Bouche P ; Stoltenburg G ; Richard P ; Udd B ; Goudeau B ; Eymard B | 2008Myofibrillar myopathies (MMF), defined by an abnormal accumulation of diverse proteins within muscle fibers, correspond to an expanding number of genetic abnormalities. Material and methods: In our department, 64 patients from 43 families presen[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Olive M | 2008Desminopathies are familial or sporadic muscle disorders due to mutations in the desmin gene. The disease is autosomal dominant in most of the cases, but not infrequently results from de novo mutations. By contrast, recessive mutations have been[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tetreault M ; Srour M ; Allyson J ; Thiffault I ; Loisel L ; Robitaille Y ; Vanasse M ; Brais B | 2008Limb girdle muscular dystrophies are a heterogeneous group of pathologies characterized by weakness and wasting of the limb girdle muscles, with typical sparing of the face. To date, seven autosomal dominant forms (LGMD1A-G) and thirteen autosom[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kazakov VM ; Rudenko D ; Kolynin V | 2008We give the description of two autosomal dominant with 4q35 linked facioscapuloperoneal muscular dystrophy families in which the patients were re-examined by V.K. after 28 -37 years and the typical changes of the pattern of muscle affections on [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Haddad H ; Rigolet A ; Caizergues D ; Douar AM ; Millot L ; Lambert I ; Liabeuf M ; Laforet P ; Leturcq F ; Voit T ; Behin A ; Eymard B ; Carlier P ; Benveniste O ; Lemoine F ; Hogrel JY ; Rosier-Montus M ; Denèfle P ; Herson S ; Masquelier AM | 2008In late November 2006, GENETHON initiated its first gene therapy clinical trial in gamma-sarcoglycanopathy (LGMD2C), a rare autosomal recessive muscular disorder caused by mutations in the gamma-sarcoglycan gene. Patients commonly present with p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Scutifero M ; Saccone V ; Di Gregorio MG ; Ventriglia VM ; Passamano L ; Cecio MR ; Piluso G ; Canki-Klain N ; Nigro V ; Politano L | 2008Limb-girdle muscular dystrophies (LGMD) include a broad group of genetically determined progressive muscle disorders. By definition, patients should present primary or predominant symmetrical atrophy of the pelvic and/or shoulder girdle musculat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Monnier N ; Marty I ; Drouhin S ; Lamaria M ; Teissier N ; Thérier P ; Labarre-Vila A ; Lunardi J | 2008RYR1-related diseases include malignant hyperthermia and structural congenital myopathies among which the most common are core myopathies. Other forms such as centronuclear myopathies and myopathies with predominance of type I fibres or with dis[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stojkovic T ; Hammouda EH ; Richard P ; Laforet P ; Lopez de Munain A ; Besnier-Penisson I ; Ferrer X ; Eymard B | 2008Background : Hereditary inclusion body myopathy with Paget disease of bone (PDB) and frontotemporal dementia (FTD), or IBMPDF disease, is an autosomal dominant disorder related to mutations in Valosin-containing protein (VCP). Objective: The aim[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duboc D ; Wahbi K ; Meune C ; Eymard B ; Toutain A ; Bérard C ; Bécane HM | 2008DMD: Background Duchenne muscular dystrophy (DMD), due to lack of dystrophin, is associated with severe myocardial dysfunction. Although preliminary data support the efficacy of angiotensin-converting enzyme inhibitors on left ventricular ([...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh S ; Rathore C ; Goyal V ; Shukla G ; Jagannathan N ; Behari M | 2008Background: Muscle histopathology, in myopathies does not give any information about the biochemical changes in the muscles in disease. MR spectroscopy can throw some light on the biochemical aspect of muscle pathology, and may be of incremental[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Medja F ; Jardel C ; Nelson I ; Tchikviladzé M ; Laforet P ; Eymard B ; Lombès A | 2008Genetic alterations of the catalytic subunit of the polymerase gamma gene (POLG) have been recently involved in very diverse clinical diseases ranging from early severe Alpers-Huttenlocher syndrome to late adult diseases presenting with a very d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Esquitin N ; Escobar RE ; Miranda A ; Escobar MG ; Coral R ; Rodriguez M ; Velasquez AC | 2008Duchenne muscular dystrophy is a neuromuscular disease genetically inherited X-linked condition with progressive physical disability. The exact functional role of the dystrophin in the brain is unknown, but their absence is associated with a dow[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pagnon-Minot A ; Malbouyres M ; Haftek-Terreau Z ; H Kim R ; Sasaki T ; Thisse C ; Thisse B ; Ingham PW ; Ruggiero F ; Le Guellec D | 2008Muscle cells are surrounded by extracellular matrix, the components of which play an important role in signalling mechanisms involved in their development. In mice, loss of collagen XV, a component of basement membranes expressed primarily in sk[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Charvet B ; Bader H ; Schulze J ; Koch M ; Ruggiero F | 2008The myotendinous junction (MTJ) provides a structural link between the muscle cell cytoskeleton and the extracellular matrix (ECM) of tendons. Lack of one of the MTJ components can alter dramatically muscle cell anchoring to the tendon. Still, i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sigoillot S ; Lambergeon M ; Bourgeois F ; Leger J ; Legay C | 2008Congenital Myasthenic Syndromes (CMS) are inherited muscular disorders affecting neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (ColQ) underlie synaptic basal lamina associated congenital[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pedemonte M ; Ottonello G ; Scapolan S ; Doglio L ; Minetti C | 2008Neuromuscular disorders (NMD) are the most important cause of hypercapnic respiratory insufficiency in childhood and respiratory failure is the major cause of morbidity and mortality in NMD. The use of non-invasive ventilation (NIV) in NMD patie[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Clarke N ; Monnier N ; Smith R ; Waddell L ; Cooper S ; Lunardi J ; North K | 2008Background: Congenital fibre type disproportion (CFTD) is a subtype of congenital myopathy in which consistent type 1 fibre hypotrophy, compared to type 2 fibres, is the main histological abnormality. Recessive mutations in RYR1 have been associ[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martoni E ; Bovolenta M ; Grumati P ; Fabris M ; Trabanelli C ; Venturoli A ; Fini S ; Previtali S ; Mercuri E ; Messina S ; Bertini E ; Maioli M ; Sabatelli P ; Colomer J ; Marrosu G ; Bernardi P ; Bonaldo P ; Merlini L ; Ferlini A ; Gualandi F | 2008The collagen VI related myopathies include Bethlem (BM) and Ullrich (UCMD) muscular dystrophies, a pure limb girdle presentation (LGMD) and the Myosclerosis Myopathy. Despite of extensive sequencing procedures, either at genomic or cDNA level, t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hestand MS ; Van Galen M ; Villerius MP ; van Ommen GJB ; den Dunnen JT ; 't Hoen PAC | 2008The computational identification of transcription factor binding sites is difficult due to their small size, resulting in large numbers of false positives and negatives in current approaches. Two computational methods to reduce false positives a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boyer F ; Percebois L ; Jolly D ; Blanchard F ; Novella JL | 2008Introduction: Quality of life (QoL), health related quality of life (HRQoL) and perceived health measures are broadly explored. To understand definitely these measurements, we offer to remind you of basic concepts. Method: Pubmed search with key[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nevo Y ; Becker-Cohen M ; Yaron Y ; Pras E ; Resnik-Wolf H ; Rachmiel M ; Mitrani-Rosenbaum S | 2008A child presenting with hypotonia and muscle weakness since infancy, ambulation until twelve years of age, seizures and normal cognitive function is described. CK was elevated (650-1420 IU/L). Brain MRI showed a few abnormal T2 white matter chan[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bauche S ; Lipecka J ; Vinh J ; Demay-Thomas E ; Ben Ammar A ; Chevessier F ; Faraut B ; Witzemann V ; Rossier J ; Eymard B ; Koenig J ; Hantaï D | 2008Congenital myasthenic syndromes (CMS) are rare hereditary diseases characterized by a dysfunction of the neuromuscular transmission. Our group has identified MUSK mutations (one nonsense and one missense) in a CMS patient. Study of the patient’s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Larue S ; Behin A ; Laforet P ; Sternberg D ; Richard P ; Beillevaire T ; Hezode M ; Rigal O ; Gaudon K ; Claeys K ; Stoltenburg G ; Hantaï D ; Eymard B | 2008Congenital myasthenic syndromes (CMS) are a group of inherited disorders in which neuromuscular transmission is impaired, with several possible clinical presentations. The diagnosis of CMS may be particularly difficult in patients with a myopath[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Morin X ; Jaouen F ; Durbec P | 2008The spatio-temporal regulation of symmetrical as opposed to asymmetric cell divisions directs the fate and location of cells in the developing CNS. In invertebrates, G-protein regulators control spindle orientation in asymmetric divisions, which[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ferreiro A | 2008Congenital myopathies are inherited disorders defined by distinct structural changes in muscle fibres. Among these cytoarchitecture changes, core lesions, consisting of localized areas of mitochondria depletion and sarcomere disorganization, def[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Theveniau-Ruissy M ; Dandonneau M ; Miquerol L | 2008TBX1, encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and cardiovascular defects including tetralogy of Fallot and common arterial trunk. Mice lacki[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Buj Bello A ; Fougerousse F ; Jamet T ; Durand M ; Kretz C ; Danos O ; Douar AM ; Montus M ; Denèfle P ; Mandel JL | 2008Myotubular myopathy (XLMTM) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the presence of small non-regenerative myofibres with frequent occurence of internalized nuclei. No specifi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Marquis J ; Trub J ; Trono D ; Schumperli D | 2008Spinal Muscular Atrophy (SMA) is caused by deletion/inactivation of the SMN1 (survival of motoneurons) gene resulting in a degeneration of ?-motoneurons. A second, nearly identical gene (SMN2) allows patients to survive into early childhood, but[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Dilek N ; Martens B ; Quinn C ; Moxley R | 2008Objective: To document the correlations between measures of muscle strength, function and QOL in DM-1. Background: Research funding agencies and Regulatory agencies are increasingly requiring clinical outcome measures that are reliable, responsi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tiret P ; Lecoq J ; Chaigneau E ; Ducros M ; Knopfel T ; Charpak S | 2008Several techniques of human functional brain imaging measure changes in blood flow parameters to localize activated cerebral regions. At present, the study of the spatio-temporal coupling between neuronal activity and associated vascular paramet[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lafoux A ; Bertrand J ; Gervier P ; Huchet-Cadiou C | 2008In duchenne’s muscular dystrophy, that is characterized by a progressive skeletal muscle fiber necrosis, the membrane-stabilizing protein dystrophin is missing, and this leads to altered total Ca2+ content in muscle fibers. This study investigat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makoukji J ; Trousson A ; Fonte C ; Grenier J ; Schumacher M ; Massaad C | 2008Glucocorticoids play a major role in the nervous system and promote myelination. Their action is mediated by the glucocorticoid receptor (GR) that recruits coactivators(CBP or p300). We investigated the role of CBP and p300 in Schwann cells. We [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ottaviani A ; Rival-Gervier S ; Boussouar A ; Forster A ; Rondier D ; Bauwens S ; Gilson E ; Magdinier F | 2008Both genetic and epigenetic alterations contribute to the Facio-Scapulo-Humeral Dystrophy (FSHD) linked to the reduction of a number of D4Z4 repeated elements at the 4q35 locus. The consequence of this rearrangement remains enigmatic but deletio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coletti D ; Berardi E ; Aulino P ; Moresi V ; Pristerà A ; Sassoon D ; Molinaro M ; Adamo S | 2008Chronic exposure to tumor necrosis factor-alpha (TNF) triggers muscle wasting reminiscent of cachexia (1), a debilitating syndrome characterized by skeletal muscle wasting (2). In addition to TNF-treated muscle we exploited tumor (C26)-bearing m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernard N ; Duplan L ; Marin P ; Raoul C ; Pettmann B | 2008Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving degeneration of the upper and lower motoneurons leading to progressive muscle atrophy. The best caracterized familial form of this disease is linked to mutations in the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Feron M ; Rouger K ; Dubreil L ; Arnaud MC ; Megeney L ; Sakanyan V ; Guevel L | 2008Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The pathology is caused by mutations in the dystrophin gene but the mechanisms linking the absence of dystrophin to the massive muscle necrosis and progr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Al-Qusairi L ; Weiss N ; Sanoudou D ; Berbey C ; Messaddeq N ; Kretz C ; Allard B ; Beggs AH ; Mandel JL ; Jacquemond V ; Laporte J ; Buj Bello A | 2008X-linked myotubular myopathy (XLMTM) is a severe congenital disease that affects the skeletal musculature leading to early postnatal death of most patients. The gene responsible for the disorder, MTM1, encodes a lipid phosphatase named myotubula[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yang X ; Mertens B ; Lehtonen E ; Vercammen L ; Bockstael O ; Chtarto A ; Levivier M ; Brotchi J ; Sarre S ; Tenenbaum L | 2008A tetracycline (tet)-inducible adeno-associated viral vector expressing human GDNF cDNA (AAV-tetON-GDNF) was administered in the striatum of rats 5 weeks after lesioning by intrastriatal 6-hydroxydopamine injection. A significant tet-dependent i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bertrand A ; Renou L ; Gueneau L ; Decostre V ; Lacene E ; Arimura T ; Malissen M ; Bonne G | 2008Lamin A and C, encoded by LMNA gene, localize at the inner face of the nuclear membrane and interact with multiple proteins and DNA. Mutations reported all along the LMNA gene are responsible for multiple diseases including Emery-Dreifuss muscul[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Simon S ; Fontaine JM ; Martin J ; Sun X ; Hoppe A ; Welsh M ; Benndorf R | 2008Three mutations (R120G, Q151X, 464?CT) in the small heat shock protein (sHsp) ?B-crystallin (?BC) have been found to cause inherited myofibrillar myopathy (Selcen and Engel, 2003; Vicart et al., 1998). ?BC forms homo-dimers, hetero-dimers with o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benedetti S ; Sacco F ; Zerbini G ; Morandi L ; Pegoraro E ; Trevisan C ; Comi G ; Ferrari M ; Previtali SC ; Pappone C | 2008Mutations in LMNA gene, encoding lamin A/C, have been associated with a high risk of sudden death. The implant of a cardioverter defibrillator (ICD) is to date the only effective intervention, but no specific guidelines are available. To define [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Iodice P ; Di Tano G ; Doria C ; Saggini A ; Saggini R | 2008Aging is characterised by a gradual decrease in muscle mass and muscle strength which contributes to a decline in physical functions, increase disability, frailty, and loss of independence. Age related loss of muscle mass is referred to as sarco[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Basse N ; Couchoux H ; Génin E ; Abbaci K ; Blaineau S ; Vala C ; Bouvier-Durand M ; Le Ravalec V ; Vidal J ; Reboud-Ravaux M ; Berthier C | 2008Inhibiting the proteasome appears as a promising therapeutic tool for the treatment of muscle pathologies, including muscle atrophy and several myopathies. We have designed new proteasome inhibitors based on the cyclic natural inhibitor TMC-95A.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Clarke NF | 2008In recent years the phenotypes and histological patterns associated with known structural myopathy genes has expanded (eg RYR1, TPM3, TPM2). Many of the less well defined diagnostic entities, such as cap disease and congenital fibre type disprop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sharma M ; Tanveer N ; Sarkar C ; Gulati G ; Kalra K ; Singh S ; Bhatia R | 2008Objectives : To elucidate the role of skin biopsy in the diagnosis of dystrophinopathies. Study design : Paired skin and muscle biopsies from 39 cases of Duchenne muscular dystrophy, 4 cases of Becker muscular dystrophy and 37 controls w[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Heemskerk H ; de Winter C ; De Kimpe S ; van Kuik-Romeijn P ; Heuvelmans N ; Platenburg G ; van Ommen GJ ; van Deutekom J ; Aartsma Rus A | 2008Antisense-mediated exon skipping is a potential treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) the disrupted DMD reading frame is restored, allowing the generation of partially functional dystrophin and [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Miles M ; Carlson CG | 2008Daily treatment of adult mdx mice with intraperitoneal injections of pyrrolidine dithiocarbamate (PDTC) substantially improved the resting membrane potential in severely dystrophic (mdx) triangularis sterni (TS) muscle fibers (Carlson et al., Ne[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Franco D ; Velasco E ; Martinez S ; Lyons G ; Navarro F ; Aranega A | 2008Pitx2 is a member of the bicoid family of homeodomain transcription factors that plays a relevant role in morphogenesis. Pitx2 expression has been detected in many tissues during development, including myotomes as well as in migrating myoblasts.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Eisenberg I ; Eran A ; Lidov HG ; Kang PB ; Kohane IS ; Kunkel LM | 2008The muscular disorders are a heterogeneous group of over thirty different inherited diseases characterized by muscle wasting and progressive weakness of variable distribution and severity, resulting in significant morbidity and disability. Altho[...]Article
Distribution of ribonucleoprotein complexes in cajal bodies from SMA type i-derived fibroblast cells
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Renvoisé B ; Lefebvre S | 2008Spinal Muscular Atrophy (SMA) is a common neurodegenerative disease caused by reduced levels of the Survival Motor Neuron (SMN) protein. SMN is part of a large ubiquitous protein complex that concentrates in nuclear gems/Cajal bodies (CBs) and p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Suominen T ; Bachinski L ; Raheem O ; Haapasalo H ; Kress W ; Krahe R ; Udd B | 2008Myotonic dystrophy type 2 (DM2) is caused by (CCTG)n repeat expansion in the first intron of ZNF9 gene, with the smallest reported disease causing expansion of 75 repeats. Repeat region consists of a complex motif (TG)12-26(TCTG)7-12(CCTG)3-9(G/[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blumen SC ; Israeli D ; Robin V ; Astord S ; Barkats M ; Vignaud L ; Porte F ; Achiron A ; Carasso RL ; Gurevich M ; Braverman I ; Blumen N ; Viollet L | 2008Distal hereditary motor neuronopathies form a heterogeneous group of rare inherited lower motor neuron disorders. Autosomal recessive inheritance has been reported in six subtypes (dHMN III, IV, VI, Jerash type). We studied a large inbred Israel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maqbool T ; Soler C ; Jagla T ; Jagla K | 2008Leg muscles of Drosophila display a unique vertebrate-like multi-fiber organization. They form a highly stereotyped pattern of dorsal and ventral multi-fiber muscle units, which are attached to the internal tendons in the adult leg (soler et al.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chartier A ; van der Maarel SM ; Verrips T ; Simonelig M | 2008Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease characterized by eyelid dropping, swallowing difficulties and limb weakness. Alanine expansions in the coding region of poly(A) binding protein N1 (PABPN1) resulting from GCG trin[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boulanger A ; Ramanoudjame C ; Dura JM | 2008At the neuromuscular junction (NMJ) individual muscle fibers are first contacted by many motoneurons, later in development synapse elimination and denervation followed by branch pruning occurs, so that, only one motoneuron innervates a same musc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yacoub-Youssef H ; Arnold L ; Gherardi K ; Chazaud B | 2008Macrophages are important for skeletal muscle regeneration and may exert beneficial effects on myogenic cell growth through mitogenic and anti-apoptotic activities. However, macrophages are highly versatile and may exert various, and even opposi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Berardinelli A ; Orcesi S ; Rossi M ; Motta C ; Gorni K ; Balottin U | 2008Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder due to lack of Dystrophin protein in muscle. Dystrophin is mainly concentrated in skeletal and cardiac muscle and less in smooth muscle, its deficiency causing s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ferreiro V ; Giliberto F ; Muniz Garcia N ; Francipane L ; Marcese D ; Roque M ; Frechtel G ; Szijan I | 2008The severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD) are characterized by progressive muscular degeneration. Both are caused by mutations in the dystrophin gene (Xp21.2). Two thirds of patients show intrage[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sblendorio V ; Palmieri B ; Ferrari A ; Pietrobelli A | 2008Abstract. Duchenne muscular dystrophy yields pervasive and progressive muscle mass loss. In the current measures relating to the monitoring of disease progression is relevant: 1) the type of scale used; 2) the clinical significance of the at[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Loureiro De Sousa P ; Vignaud A ; Carlier PG | 2008NMRI (Nuclear Magnetic Resonance Imaging) investigations have attempted to exploit the Blood-Oxygen-Level-Dependent (BOLD) contrast in the skeletal muscle as an estimator of physiological parameters. However, beside changes in hemoglobin saturat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Durieux AC ; Bitoun M ; Prudhon B ; Guicheney P | 2008Autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy, clinically characterized by delayed motor milestones and muscle weakness and often associated with ptosis and ophthalmoplegia. The gene responsible for AD-CNM has [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bitoun M ; Prudhon B ; Durieux AC ; Bevilacqua JA ; Romero NB ; Guicheney P | 2008The autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by delayed motor milestones, facial and muscular weakness often associated with bilateral ptosis. The typical muscle histopathology comprises central[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bevilacqua JA ; Krahn M ; Pedraza L ; Gejman R ; Gonzalez S | 2008Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin (DYSF) gene that encodes for dysferlin (MIM 603009). Dysferlinopathy manifests as two main clinical phenotypes, distal Miyoshi’s myopathy and LGM[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aouba A ; Terrier B ; Goulvestre C ; Guillevin L ; Authier FJ | 2008Muscle involvement in the setting of anti-threonyl-tRNA synthetase (anti-PL7) syndrome is usually regarded as similar to that associated with anti-Jo1 syndrome and roughly classified as polymyositis or dermatomyositis. Contrasting with this view[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Thompson O ; Kleino I ; Crimaldi L ; Gimona M ; Saksela K ; Winder S | 2008Dystroglycan is an essential component of the dystrophin glycoprotein complex of skeletal muscle (DGC), an important mediator of connections to the actin cytoskeleton and a scaffold for signalling molecules in a number of other cell types. In ad[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benard R ; Dupas B ; Tadayoni R ; Sene A ; Roux MJ ; Nudel U ; Yaffe D ; Sahel JA ; Rendon A | 2008Dp71 is the most abundant Duchenne Muscular Dystrophy (DMD) gene product expressed in the retina. This protein in the Müller glial cells (MGC) plays a role in regulating the retinal homeostasis by clustering Kir4.1 and AQP4 channels. (see poster[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Avril-Delplanque A ; Mercier S ; Daoud F ; Nusbaum P ; Leturcq F ; Kaplan JC ; Dreyfus P ; Chelly J ; Garcia L | 2008Duchenne Muscular Dystrophy (DMD) is the most severe form of dystrophinopathy, in which nul mutations in the DMD gene (mostly frameshifting deletions, and nonsense point mutations) result in the complete absence of dystrophin. A milder phenotype[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desguerre I ; Poron F ; Barbet P ; Gherardi R ; Christov C | 2008In DMD, repeated cycles of acute myofiber necrosis and regeneration progressively lead to severe terminal myofiber degeneration and extensive fibrosis. A preliminary analysis of 39 muscle biopsies from DMD patients at different ages allowed roug[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Delrée P ; Coulic V ; Collette J ; Gothot A | 2008PURPOSE :in order to easily study heart development or reconstruction, we have developed a model of ectopic (in time and location) foetal heart graft. RESULTS : In this model ,rat foetal heart (E15-E20) , is grafted in the pavilion ear of an adu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coulic V ; Delrée P ; Collette J ; Gothot A | 2008Hirschprung disease may be considered as an intestinal neuropathy with muscular dysfunction. Some hope for its treatment has appeared with cellular therapy. Aim: to test the possibility of intestinal nervous ganglia reconstruction . Material, me[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Fox D ; Ciafaloni E ; Druschel C ; Moxley R | 2008Objective : To determine the effect of age at initiation of corticosteroids on age at loss of ambulation in patients with Duchenne muscular dystrophy (DMD) Background : The hypothesis among clinicians is that earlier the initiation of corticoste[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hourde C ; Vignaud A ; Jagerschmidt C ; Butler-Browne GS ; Ferry A | 2008We have analysed the effect of physiological doses of androgens administrated after orchidectomy on the skeletal muscle of male rats, as well as the relationships between muscle performance, hypertrophy as well as the Akt/mTOR signalling pathway[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Briguet A ; Erb M ; Courdier-Fruh I ; Barzaghi P ; Santos G ; Herzner H ; Lescop C ; Siendt H ; Henneboehle M ; Weyermann P ; Magyar J ; Dubach-Powell J ; Metz G ; Meier T | 2008Dystrophin deficiency is the underlying molecular cause of progressive muscle weakness observed in Duchenne muscular dystrophy (DMD). Loss of functional dystrophin leads to elevated levels of intracellular Ca2+, a key step in the cellular pathol[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tonson A ; Ratel S ; Le Fur Y ; Cozzone P ; Bendahan D | 2008The purpose of this investigation was to determine whether maturation affects the relationship between muscle size and maximal strength and to investigate the reasons accounting for the discrepancies among previous studies. Methods: Maximal isom[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rauscent H ; Bérard C ; Humbertclaude V ; Gautheron V ; Richelme C | 2008Concerning multidisciplinary care of Duchenne Muscular Dystophy (DMD), the prevention of scoliosis remains a priority. Spinal surgery is considered as the treatment of choice and early instrumentation and fusion are widely proposed. The objectiv[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Noirez P ; Mouly V ; Fiszman M ; Keller A ; Dubois C ; Alameddine HS | 2008Fibrosis, characterized by excessive accumulation of extracellular matrix (ECM), is a hallmark of muscle biopsies in several muscular dystrophies such as Congenital (CMD) or Duchenne Muscular Dystrophies (DMD). Cell therapy trials have shown tha[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Orlikowski D ; Laforet P ; Pellegrini N ; Prigent H ; Monnet A ; Carlier P ; Carlier R ; Eymard B ; Lofaso F ; Annane D | 2008Efficacy of Enzyme Replacement (ERT)Therapy is not fully assessed in severe late-onset forms of Pompe disease (SLO Pd). The aim of the study is to assess efficacy and tolerance of ERT in SLO Pd in a Prospective, open-label, single arm, monocente[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Turin E ; Hoff H ; Gatti F ; Winders T ; Singh R ; Starke J ; Rutter J ; Bledsoe C ; Lavin J ; Palmieri B ; Carlson CG | 2008Ursodeoxycholic acid (UDCA) is in current clinical use for the treatment of biliary cirrhosis and has been shown to reduce nuclear p65 activation in HeLa cells expressing elevated glucocorticoid receptor (Miura et al., J. Biol. Chem., 276(50), 4[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernardi H ; Gay S ; Fedon Y ; Bolzec T ; Bacou F | 2008The molecular signals that regulate satellite cell function remain largely obscure. However, it was recently demonstrated that Wnts participate in the temporal control of satellite cell expansion versus differentiation during adult muscle regene[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lostal W ; Bourg N ; Roudaut C ; Miyake K ; Mcneil P ; Bartoli M ; Richard I | 2008Dysferlinopathies are recessive muscular disorders caused by defects in dysferlin. Genetic mutations are responsible for two major phenotypes: Limb Girdle Muscular Dystrophy type 2B and Distal Miyoshi Myopathy. These skeletal muscle diseases are[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Steffensen B ; Mayhew A ; Aloysius A ; Eagle M ; Mercuri E ; Messina S ; Mazzone E ; Nadeau A ; Main M ; Scott E ; Werlauff U ; Werge B ; Glanzmann A ; Muntoni F | 2008The EK scale was developed as a clinical tool to assess functional ability and to determine the need for and impact of intervention in the non-ambulatory stages of Duchenne muscular dystrophy (DMD) and in spinal muscular atrophy (SMA). EK is a c[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blais F ; Léjard V ; Maro GS ; Gilardi-Hebenstreit P ; Rossert J ; Duprez D | 2008The molecular mechanisms underlying tendon formation during vertebrate embryogenesis are still largely unknown. In Drosophila, tendon differentiation relies upon the transcription factor stripe, an Early growth response (Egr)-like transcription [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Giroux-Metgès MA ; Hogrel JY ; Fiszman MY ; Fromes Y | 2008CHF147 hamster strain is an animal model of delta-sarcoglycan deficiency. Skeletal muscular dystrophy features observed in this model are very similar to those described in humans with more severe disease in proximal than distal muscles. Muscle [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boerio D ; Lefaucheur JP ; Bassez G ; Hogrel JY | 2008Fatigue frequently occurs in various neuromuscular disorders specially in myotonic dystrophy type 1 (DM1). However its pathophysiology remains unclear. This study aimed to investigate the effects of exercise-related fatigability on central and p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jaconi M | 2008Cell transplantation therapy is an attractive strategy in the treatment of myocardial infarction. Given the present lack of a good cardiogenic source for transplantation among adult stem cells, lots of studies are presently focusing on methodolo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desguerre I ; Barbet P ; Gherardi R ; Christov C | 2008The primary muscle fiber injury in DMD is due to total absence of dystrophin. With evolution of the disease, an increasing extent of myofibrosis, the precise mechanisms of which remain to be fully determined, likely accelerates myofiber death. I[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Malerba A ; Vitiello L ; Segat D ; Dazzo E ; Frigo M ; Scambi I ; Boldrin L ; Martelli L ; Pasut A ; Romualdi C ; Baroni D | 2008Skeletal muscle regeneration relies onto a specific population of myogenic precursors, named satellite cells. Inflammation also has a determinant role, as upon injuring macrophages are attracted by the damaged myofibers and the activated satelli[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nivet AL ; Plancheron A ; Lustremant C ; Peschanski M ; Monville C | 2008Duchenne muscular dystrophy (DMD) is a genetic disease with an X-linked recessive pattern of inheritance. It affects one in 3,500 boys at birth. Muscular dystrophies are caused by mutation of the same gene encoding for the dystrophin. This prote[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mongue-Din H ; Liu JM ; Salmon A ; Fiszman MY ; Wdzieczak-Bakala J ; Fromes Y | 2008The chronically failing heart is characterized by alterations in tissue structure, particularly fibrous tissue formation, responsible for the loss of myocardial compliance. Furthermore, rhythm disturbances are commonly observed. The underlying a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Doglio L ; Pernigotti I ; Tacchino C ; Pedemonte M ; Scapolan S ; Minetti C | 2008DMD patients walk with a non-physiological pattern showing a initially weakness of antigravitary muscles, followed by loss of walking capability. Initially, DMD patients do not show clinical signs of pathological pattern, that become manifest wi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jenny C ; Albert V ; Vovard F ; Denèfle P ; Merten OW | 2008Myogenic progenitor cells are promising tools for cell therapy to treat neuromuscular disorders. But a challenging question is their amplification to a satisfying scale for clinical applications. Until now, most of myogenic progenitor cells have[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vattemi G ; Marini M ; Mechref Y ; Meneguzzi A ; Tonin P ; Grigoli L ; Di Chio M ; Tedesco V ; Lovato L ; Filosto M ; Scarpelli M ; Chiamulera C ; Minuz P ; Novotny M ; Tomelleri G | 2008Mitochondrial diseases (MD) are multisystemic disorders, mostly affecting central nervous system, skeletal and cardiac muscle. To evaluate the hypothesis that in MD the vessel wall, in particular the vascular endothelium, may be affected by incr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Belicchi M ; Meregalli M ; Razini P ; Cattaneo A ; Farini A ; Iacchetti E ; Porretti L ; Milani P ; Bresolin N ; Torrente Y | 2008The use of stem cells in regenerative medicine and cell-based therapies offers immense potential in diseases witch have currently no treatment such as Duchenne muscular dystrophy. A limitation to the use of CD133+ for a therapeutic application i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Falorni M ; Volpi L ; Calsolaro V ; Bonanni E ; Monzani F ; Emdin M ; Siciliano G | 2008Excessive daytime sleepiness (EDS) is common in patients with Myotonic Dystrophy type 1(DM 1) and is a major factor that interferes with the social life of the disease. There are contrasting opinions in literature about the mechanism of EDS in D[...]Article
Exercise-induced rhabdomyolysis as isolated clinical expression of COQ10 deficiency. A new phenotype
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; González-Pérez P ; Rivas-Infante E ; Sánchez-Alcázar JA ; Navas Lloret P ; Bautista-Lorite J | 2008OBJECTIVES: We present a new phenotype associated to CoQ10 deficiency characterised by a late-onset recurrent myoglobinuria and exercise intolerance without muscle weakness nor CNS involvement. CoQ10 supplementation was introduced and by now the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Navarro C ; Farini A ; Meregalli M ; Belicchi M ; Parolini D ; Razini P ; Krahn M ; Wein N ; Bourg N ; Bartoli M ; Richard I ; Torrente Y | 2008Mutations in gene encoding Dysferlin are involved in Limb-gird Muscular Dystrophy type 2B (LGMD-2B) and and Miyoshi myopathy (MM), both diseases are characterized by progressive weakness and wasting of skeletal muscles. Dysferlin is abundantly e[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rahbek J | 2008Most clinicians, researchers, health care advocates, policy makers, and even third-party payers agree - on a conceptual level - that the measurement of QoL is an important consideration in evaluating the effectiveness of medical rehabilitation i[...]