Belinda Cowling

VP, Head of Biomarkers

Vertex Pharmaceuticals (United States)

United States

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Belinda Cowling is the Vice President and Head of Biomarkers at Ionis Pharmaceuticals in the United States. Her research primarily focuses on muscle physiology, centronuclear myopathy, and the modeling of disease progression in myotubular myopathy. Recent publications include studies on the phenotypic spectrum of DNM2-related centronuclear myopathy and global incidence estimates for hereditary spastic paraplegia subtypes.

Articles (10)

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2022

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2022

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2022

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2022

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2022

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2021

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2021

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2021

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2020

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2020

Collaborators (4)

Marc Bitoun

INSERM

FRANCE

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Jocelyn Laporte

University of Strasbourg

FRANCE

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Hichem TASFAOUT

Assistant Professor

University of Washington

UNITED STATES

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Jean-Yves Hogrel

Institut de Myologie

FRANCE

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Belinda Cowling

Research Interests

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Articles (10)

BIN1 modulation in vivo rescues dynamin-related myopathy

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

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.

Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear Myopathy.

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

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

Collaborators (4)

Marc Bitoun

Jocelyn Laporte

Hichem TASFAOUT

Jean-Yves Hogrel

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