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Pascale Guicheney

Showing results (31-40 of 121) with videos related to

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Neuromuscular Disorders : NMD|March 23, 2007
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneHeinz Jungbluth, Haiyan Zhou, Caroline A Sewry, et al.
Biochemical and Biophysical Research Communications|February 21, 2006
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?Mariko Taniguchi, Hiroki Kurahashi, Satoru Noguchi, et al.
The Journal of Physiology|October 27, 2017
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup> mouse model of centronuclear myopathyCandice Kutchukian, Peter Szentesi, Bruno Allard, et al.
Human Mutation|July 23, 2009
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosisMarc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, et al.
Brain : a Journal of Neurology|April 6, 2006
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathyDirk Fischer, Muriel Herasse, Marc Bitoun, et al.
Cardiovascular Research|May 14, 2005
Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutationsDagmar I Keller, Jean-Sébastien Rougier, Jan P Kucera, et al.
Traffic (Copenhagen, Denmark)|February 29, 2012
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in miceAnne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, et al.
Neuromuscular Disorders : NMD|May 29, 2002
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencySusana Quijano-Roy, Lucía Galan, Ana Ferreiro, et al.
Heart Rhythm|March 4, 2014
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillationAzza Ziyadeh-Isleem, Jérôme Clatot, Sabine Duchatelet, et al.
Cardiovascular Research|June 29, 2012
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunitsJérôme Clatot, Azza Ziyadeh-Isleem, Svetlana Maugenre, et al.
Pageof 13

Showing results (31-40 of 121) with videos related to

Sort By:
Pageof 13
Neuromuscular Disorders : NMD|March 23, 2007
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneHeinz Jungbluth, Haiyan Zhou, Caroline A Sewry, et al.
Biochemical and Biophysical Research Communications|February 21, 2006
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?Mariko Taniguchi, Hiroki Kurahashi, Satoru Noguchi, et al.
The Journal of Physiology|October 27, 2017
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup> mouse model of centronuclear myopathyCandice Kutchukian, Peter Szentesi, Bruno Allard, et al.
Human Mutation|July 23, 2009
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosisMarc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, et al.
Brain : a Journal of Neurology|April 6, 2006
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathyDirk Fischer, Muriel Herasse, Marc Bitoun, et al.
Cardiovascular Research|May 14, 2005
Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutationsDagmar I Keller, Jean-Sébastien Rougier, Jan P Kucera, et al.
Traffic (Copenhagen, Denmark)|February 29, 2012
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in miceAnne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, et al.
Neuromuscular Disorders : NMD|May 29, 2002
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencySusana Quijano-Roy, Lucía Galan, Ana Ferreiro, et al.
Heart Rhythm|March 4, 2014
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillationAzza Ziyadeh-Isleem, Jérôme Clatot, Sabine Duchatelet, et al.
Cardiovascular Research|June 29, 2012
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunitsJérôme Clatot, Azza Ziyadeh-Isleem, Svetlana Maugenre, et al.
Pageof 13