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Keywords: Dynamin
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Journal Articles

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy

Open Access
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.
https://doi.org/10.1242/dmm.049284
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...
View articletitled, Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy
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Includes: Supplementary data
Journal Articles

A dog model for centronuclear myopathy carrying the most common DNM2 mutation

Open Access
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.
https://doi.org/10.1242/dmm.049219
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...
View articletitled, A dog model for centronuclear myopathy carrying the most common DNM2 mutation
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Includes: Supplementary data
Journal Articles

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

Open Access
In collection:
Neuromuscular Disease
Ivana Prokic, Belinda S. Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte
Journal: Disease Models & Mechanisms
Dis Model Mech (2020) 13 (11): dmm044354.
https://doi.org/10.1242/dmm.044354
Published: 24 November 2020
... and muscle-specific isoforms. It is shown here that ubiquitous isoforms are necessary for muscle development, whereas muscle-specific isoforms fine-tune muscle regeneration. Myotubular myopathy Centronuclear myopathy XLMTM SH3 domain BAR domain Myotonic dystrophy Triad Dynamin Myoblast fusion...
View articletitled, Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration
Open the PDF for Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration in another window
Includes: Supplementary data