Belinda S. Cowling
Illkirch-graffenstaden, France
Last Updated: 09/26/2026
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Found 39 publications
Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.
Journal: Journal of neuromuscular diseases
Published: August 14, 2026
DNM2 lipid binding drives centronuclear myopathy and represents a potential therapeutic target.
Journal: JCI insight
Published: January 08, 2026
Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.
Journal: Neuromuscular disorders : NMD
Published: December 22, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.
Journal: Journal of neuromuscular diseases
Published: April 25, 2025
Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy.
Journal: Neuromuscular disorders : NMD
Published: July 17, 2024
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice.
Journal: Neurobiology of disease
Published: January 30, 2024
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Journal: Neurology. Genetics
Published: May 31, 2022
BIN1 modulation in vivo rescues dynamin-related myopathy.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 18, 2022
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Journal: International journal of molecular sciences
Published: October 02, 2021
Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy.
Journal: Disease models & mechanisms
Published: September 06, 2021
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Journal: Nature communications
Published: September 06, 2021
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.
Journal: BMC neurology
Published: August 24, 2021
Last Updated: 09/26/2026