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Keywords: Neuromuscular disorder
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Journal Articles
In collection:
Neuromuscular Disease
Suzie Buono, Arnaud Monseur, Alexia Menuet, Anne Robé, Catherine Koch, Jocelyn Laporte, Leen Thielemans, Marion Depla, Belinda S. Cowling
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (7): dmm049284.
Published: 25 July 2022
... therapeutic Dnm2 reduction in a dose–response analysis. Centronuclear myopathy Myotubular myopathy Preclinical disease model Dynamin Antisense oligonucleotide Therapy Neuromuscular disorder Dynacure Be Est Projets d'Avenir du programme d'Investissement Avenir 3 coDyn101...
Includes: Supplementary data
Journal Articles
Johann Böhm, Inès Barthélémy, Charlène Landwerlin, Nicolas Blanchard-Gutton, Frédéric Relaix, Stéphane Blot, Jocelyn Laporte, Laurent Tiret
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (4): dmm049219.
Published: 14 April 2022
... DNM2 mutation associated with autosomal dominant centronuclear myopathy in humans. Neuromuscular disorder Congenital myopathy Dynamin Large animal model T-tubules MTM1 Fondation Maladies Rares 11734 Association Française contre les Myopathies http://dx.doi.org...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2014) 7 (12): 1407–1415.
Published: 1 December 2014
... behaviour evident in these mutants. Unravelling the genetic and molecular basis of inherited diseases is fundamental for the development of therapies. To date, 360 genes have been associated with inherited monogenic neuromuscular disorders in human, however, many more remain unresolved with at least...
Includes: Supplementary data
