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Journal of Cellular Physiology|May 27, 2003
Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G-protein-coupled protease-activated receptor-1Brice Faraut, Julien Barbier, Aymeric Ravel-Chapuis, et al.The Journal of Cell Biology|January 7, 2009
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophyAlexandre Méjat, Valérie Decostre, Juan Li, et al.Neuromuscular Disorders : NMD|December 9, 2003
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutationEriko Yasaki, Cassandra Prioleau, Julien Barbier, et al.Journal of Medical Genetics|October 9, 2010
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencingKaren Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, et al.Neuromuscular Disorders : NMD|September 10, 2013
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndromeStéphanie Bauché, Delphine Boerio, Claire-Sophie Davoine, et al.Human Molecular Genetics|October 22, 2004
MUSK, a new target for mutations causing congenital myasthenic syndromeFrédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.Journal De La Societe De Biologie|August 24, 2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.Plos One|January 18, 2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myastheniaAsma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, et al.American Journal of Human Genetics|January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathyJohann Böhm, Frédéric Chevessier, André Maues De Paula, et al.American Journal of Human Genetics|July 28, 2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse functionCaroline Huzé, Stéphanie Bauché, Pascale Richard, et al.Pageof 3