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Keywords: Myotubular myopathy
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Journal Articles
In collection:
Neuromuscular Disease Models
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
... longitudinal–survival modeling of the progressive phenotype observed in Mtm1 −/y mice, a reliable model for myotubular myopathy. Analysis of historical data was used to generate a model for phenotype progression, which was then confirmed with phenotypic data from a new colony of mice derived via in vitro...
Includes: Supplementary data
Journal Articles
In collection:
Neuromuscular Disease Models
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (7): dmm049342.
Published: 25 July 2022
...Ege Sarikaya; Nesrin Sabha; Jonathan Volpatti; Emanuela Pannia; Nika Maani; Hernan D. Gonorazky; Alper Celik; Yijng Liang; Paula Onofre-Oliveira; James J. Dowling ABSTRACT X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss...
Includes: Supplementary data
Journal Articles
In collection:
Neuromuscular Disease Models
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
... attributed. Summary: The BIN1 gene, mutated in centronuclear myopathies, expresses ubiquitous 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...
Includes: Supplementary data
