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trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de rechercheAllele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
Trochet D, Prudhon B, Beuvin M, et al.
EMBO Molecular Medicine, 2017, Epub, 15 p.Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
González-Jamett AM, Baez-Matus X, Olivares MJ, et al.
Scientific Reports, 2017, 7,1, 16 p.Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.
Fraysse B, Guicheney P, Bitoun M
Biology open, 2016, 5, 11, p. 1691-1696Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
Hankiewicz K, Carlier RY, Lazaro L, et al.
Muscle & Nerve, 2015, 52, 5, p. 728-35Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of ?-dystroglycan in Cells and Tissues.
Inamori KI, Willer T, Hara Y, et al.
The Journal of biological chemistry, 2014, EpubLa découverte de la déficience en Mérosine : contribution à l'histoire des DMC
Tomé F, Guicheney P, Fardeau M
Les Cahiers de Myologie, 2013, 9, p. 5-7Role of dynamin 2 in the disassembly of focal adhesions
Brinas L, Vassilopoulos S, Bonne G, et al.
J Mol Med (Berl), 2013, 91, 7, p. 803-809An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy
Shevchuk AI, Novak P, Taylor M, et al.
Journal of cell biology, 2012, 197, 4, p. 499-508Selenoprotein N in skeletal muscle: from diseases to function
Castets P, Lescure A, Guicheney P, et al.
Journal of molecular medicine, 2012, 90, 10, p. 1095-1107Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm J, Biancalana V, DeChene ET, et al.
Human mutation, 2012, 33, 6, p. 949-959A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice
Durieux AC, Vassilopoulos S, Lainé J, et al.
Traffic, 2012, 13, 6, p. 869-879Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy
Rederstorff M, Castets P, Arbogast S, et al.
PLoS ONE, 2011, 6, 8, e23094, 13 p."Core-rod myopathy" non associé au gène RYR1 : Poster M8 présenté lors des IXèmes Journées Annuelles de la Société française de Myologie (SFM) 3-5 novembre 2011 Angers
Malfatti E, Taratuto AL, Monges S, et al.
2011, p 52Satellite cell loss and impaired muscle regeneration in selenoproteinndeficiency (poster)
Castets P, Bertrand A, Beuvin M, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 143A centronuclear myopathy-dynamin2 mutation impairs autophagy in mice
Durieux AC, Vassilopoulos S, Lainé J, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 59Accumulation of unassembled collagen VI in endoplasmic reticulum does not induce the unfolded protein response in fibroblasts from patients with collagen VI-myopathy (poster)
Allamand V, Lainé J, Brinas L, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 57Neuroimaging findings in three patients with FKRP-related muscular dystrophy
Makri S, Salhi S, Richard P, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 56Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
Clarke NF, Maugenre S, Vandebrouck A, et al.
European journal of human genetics, 2011, 19, 4, p. 452-457Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency
Castets P, Bertrand AT, Beuvin M, et al.
Human molecular genetics, 2011, 20, 4, p. 694-704Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalisation and large areas of myofibrillar disorganisation
Bevilacqua JA, Monnier N, Bitoun M, et al.
Neuropathology and applied neurobiology, 2011, 37, 3, p 271Early onset collagen VI myopathies : genetic and clinical correlations
Brinas L, Richard P, Quijano-Roy S, et al.
Annals of neurology, 2010, 68, 4, p. 511-520Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Schoenmakers E, Agostini M, Mitchell C, et al.
The Journal of clinical investigation, 2010, 120, 12, p. 4220-4235A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice
Durieux AC, Vignaud A, Prudhon B, et al.
Human molecular genetics, 2010, 19, 24, p. 4820-4836POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies
Endo T, Manya H, Seta N, et al.
Methods in enzymology, 2010, 479, p. 343-352Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
Deconinck N, Dion E, Ben Yaou R, et al.
Neuromuscular disorders : NMD, 2010, 20, 8, p. 517-523
