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Keywords: Centronuclear myopathy
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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
.... and J.L. are co-inventors of a patent on targeting DNM2 for the treatment of centronuclear myopathies, and co-founders of Dynacure. B.S.C., C.K., S.B., A. Menuet, A.R., M.D. and L.T. are currently employed by Dynacure. 6 9 2021 23 5 2022 © 2022. Published by The Company of Biologists...
Includes: Supplementary data
Journal Articles
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (5): dmm049437.
Published: 9 May 2022
...Karla G. Espinosa; Salma Geissah; Linda Groom; Jonathan Volpatti; Ian C. Scott; Robert T. Dirksen; Mo Zhao; James J. Dowling ABSTRACT Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation...
Includes: Supplementary data
Journal Articles
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.
Published: 24 November 2020
... remodeling protein mutated in both congenital and adult centronuclear myopathies (CNM), that is ubiquitously expressed and has skeletal muscle-specific isoforms. We created and characterized constitutive muscle-specific and inducible Bin1 homozygous and heterozygous knockout mice targeting either ubiquitous...
Includes: Supplementary data
