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The Journal of Clinical Investigation|December 8, 2010
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscleKarim Hnia, Helene Tronchère, Kinga K Tomczak, et al.Human Molecular Genetics|July 3, 2003
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localizationBarbara Bardoni, Marie Castets, Marc-Etienne Huot, et al.Human Molecular Genetics|October 19, 2004
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophyAurora Pujol, Isidre Ferrer, Carme Camps, et al.Human Molecular Genetics|February 11, 2005
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblastsMarie Castets, Céline Schaeffer, Elias Bechara, et al.Journal of Human Genetics|November 26, 2005
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome familiesCorinne Stoetzel, Virginie Laurier, Laurence Faivre, et al.Neuromuscular Disorders : NMD|March 24, 2009
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2HMireille Cossée, Clotilde Lagier-Tourenne, Claire Seguela, et al.European Journal of Pediatrics|July 21, 2007
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonatesVincent Laugel, Mireille Cossée, Jacqueline Matis, et al.Human Molecular Genetics|September 30, 2006
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathyValérie Tosch, Holger M Rohde, Hélène Tronchère, et al.EMBO Molecular Medicine|April 4, 2022
AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse modelKarima Habbas, Oktay Cakil, Boglárka Zámbó, et al.Archives of Neurology|June 16, 2005
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophyValérie Biancalana, Mathias Toft, Isabelle Le Ber, et al.Pageof 21