Détail de l'auteur
Documents disponibles écrits par cet auteur
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 recherche
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy
Trochet D, Prudhon B, Beuvin M, et al.
EMBO Molecular Medicine, 2017
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
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
Whole-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. 728-35
Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-Dystroglycan in Cells and Tissues
Inamori KI, Willer T, Hara Y, et al.
The Journal of biological chemistry, 2014, 289, 41, p 28138
La 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. 5-7
Role 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. 803-809
An 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. 499-508
Selenoprotein N in skeletal muscle: from diseases to function
Castets P, Lescure A, Guicheney P, et al.
Journal of molecular medicine, 2012, 90, 10, p. 1095-1107
Mutation 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. 949-959
A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice
Durieux AC, Vassilopoulos S, Lainé J, et al.
Traffic, 2012, 13, 6, p. 869-879
Increased 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 52
Satellite 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. 143
A 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. 59
Accumulation 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. 57
Neuroimaging 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. 56
Congenital 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. 452-457
Satellite 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
Recessive 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 271
Mutations 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. 4220-4235
Early 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
A 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
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies
Endo T, Manya H, Seta N, et al.
Methods in enzymology, 2010, 479, p. 343-352
Differentiating 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
