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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
Tobaly D, Laforêt P, Perry A, et al.
Muscle & Nerve, 2019
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon A, Seferian AM, Daron A, et al.
PLoS ONE, 2018, e0201004
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy
Brogna C, Cristiano L, Tartaglione T, et al.
PLoS ONE, 2018, 13, 6
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
Rapamycin Vs. Placebo for the Treatment of Inclusion Body Myositis: Improvement of the 6 Min Walking Distance, a Functional Scale, the FVC and Muscle Quantitative MRI
Benveniste O, Hogrel JY, Annoussamy M, et al.
Arthritis & Rheumatology, 2017, 69, suppl 10
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy
Le Guiner C, Servais L, Montus M, et al.
Nature communications, 2017, 8
Imagerie et spectroscopie par résonnance magnétique nucléaire du muscle strié squelettique : Utilisation comme outil d'évaluation pour les essais cliniques
Carlier P, Marty B, Scheidegger O, et al.
Les Cahiers de Myologie, 2016, 13, p. 34-67
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Seferian AM, Malfatti E, Bosson C, et al.
Neuromuscular disorders : NMD, 2016, 26, 10, p 712
Consortium for products across Europe in Duchenne Muscular Dystrophy (SCOPE-DMD)
Straub V, Veldhuizen O, Bertoli M, et al.
Human gene therapy. Clinical development, 2015, 26, 2, p 90
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
Deconinck N, Richard P, Allamand V, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 12, p 1337
Should patients with asymptomatic pompe disease be treated? A nationwide study in France
Echaniz-Laguna A, Carlier RY, Laloui K, et al.
Muscle & Nerve, 2015, 51, 6, p 884
Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy
Wary C, Azzabou N, Giraudeau C, et al.
NMR in biomedicine, 2015, 28, 9, p 1150
Myofibrillar myopathies: State of the art, present and future challenges
Behin A, Salort-Campana E, Wahbi K, et al.
Revue neurologique, 2015, 171, 10, p 715
Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients
Le Guiner C, Montus M, Servais L, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2014, 22, 11, p 1923
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
Echaniz-Laguna A, Dubourg O, Carlier P, et al.
Neurology, 2014, 82, 21, p 1919
Quantitative magnetic resonance imaging in Limb-Girdle Muscular Dystrophy 2I : A multinational Cross-Sectional study
Willis TA, Hollingsworth KG, Coombs A, et al.
PLoS ONE, 2014, 9, 2
Dilated cardiomyopathy in patients with mutations in Anoctamin 5
Wahbi K, Behin A, Bécane HM, et al.
International journal of cardiology, 2013, 168, 1, p 76
Intérêt de l'IRM musculaire dans l'enquête étiologique des dystrophies musculaires (dystrophie "des ceintures")
Carlier RY, Carlier P
Lettre du neurologue Nerf et Muscle (La), 2013, XVII, 1, p. 24-25
A phase I trial of adeno-associated virus serotype 1-gamma-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C
Herson S, Hentati F, Rigolet A, et al.
Brain, 2012, 135, 2, p 483
Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping
Vulin A, Barthelemy I, Goyenvalle A, et al.
Molecular therapy, 2012, 20, 11, p. 2120-2133
Forelimb loco-regional injection of RAAV8-U7SNRNA in GRMD dogs allows dose-dependant dystrophin expression and phenotypic correction
Servais L, Le Guiner C, Montus M, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 25
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
Orlikowski D, Pellegrini N, Prigent H, et al.
Neuromuscular disorders : NMD, 2011, 21, 7, p. 477-482
A phase I dose-escalating trial of AAV1--sarcoglycan gene therapy for limb girdle muscular dystrophy type 2c
Benveniste O, Hentati F, Rigolet A, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 25
Clinical development of a gene therapy product for the treatment of limb girdle muscular dystrophy type 2C
Haddad H, Rigolet A, Caizergues D, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 443
Effects of one year enzyme replacement therapy in severe form of late onset pompe disease. Severe late onset treatment study (french slots)
Orlikowski D, Laforêt P, Pellegrini N, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 355
