Belinda S. Cowling

Independent Researcher

0000-0001-6915-2596

Publications

2,793

Citations

H-Index

i10-Index

1.4

2yr Mean Cite

Cite/Paper

Data combined from OpenAlex + Semantic Scholar. OA = OpenAlex S2 = Semantic Scholar

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Publication & Citation Trends

Most Cited Works

Amphiphysin 2 (BIN1) in physiology and diseases

Ivana Prokic, Belinda S. Cowling, Jocelyn Laporte

Journal of Molecular Medicine 2014

195

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes OA

Thomas Arbogast, Abdel‐Mouttalib Ouagazzal, Claire Chevalier, Maksym V. Kopanitsa, Nurudeen O. Afinowi +6 more

PLoS Genetics 2016

173

The caveolin–cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle OA

Harriet P. Lo, Susan J. Nixon, Thomas E. Hall, Belinda S. Cowling, Charles Ferguson +9 more

The Journal of Cell Biology 2015

167

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy OA

Joachim Schessl, Yaqun Zou, Meagan J. McGrath, Belinda S. Cowling, Baijayanta Maiti +16 more

Journal of Clinical Investigation 2008

154

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy OA

Belinda S. Cowling, T. Chevremont, Ivana Prokic, Christine Kretz, Arnaud Ferry +5 more

Journal of Clinical Investigation 2014

147

Publications

73 total

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

S. Buono, A. Monseur, A. Menuet, A. Robé, C. Koch - Disease Models & Mechanisms, 2022

Cited by 4 Semantic Scholar

BIN1 modulation in vivo rescues dynamin-related myopathy OA

V. M. Lionello, C. Kretz, E. Edelweiss, C. Crucifix, Raquel Gómez-Oca - Proceedings of the National Academy of Sciences of the United States of America, 2022

Cited by 21 Semantic Scholar

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

Raquel Gómez-Oca, E. Edelweiss, S. Djeddi, Mathias Gerbier, Xènia Massana-Muñoz - Nature Communications, 2022

Cited by 14 Semantic Scholar

O.02 The phenotypic spectrum of DNM2-related centronuclear myopathy

L. Hayes, M. Perdomini, A. Aykanat, C. Genetti, H. Paterson - Neuromuscular Disorders, 2022

Cited by 0 Semantic Scholar

P.121 Dnm2 reduction combined with dystrophin re-expression ameliorates the myopathic phenotype observed in the D2-mdx model of Duchenne muscular dystrophy

A. Menuet, S. Buono, A. Robé, S. Chhor, L. Eyler - Neuromuscular Disorders, 2022

Cited by 0 Semantic Scholar

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy OA

L. Hayes, M. Perdomini, A. Aykanat, C. Genetti, Heather L Paterson - Neurology: Genetics, 2022

Cited by 6 Semantic Scholar

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

G. Vander Stichele, A. Durr, G. Yoon, R. Schüle, C. Blackstone - BMC Neurology, 2022

Cited by 19 Semantic Scholar

CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES

S. Buono, A. Monseur, A. Menuet, A. Robé, C. Koch - Neuromuscular Disorders, 2021

Cited by 0 Semantic Scholar

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

Roberto Silva-Rojas, Vasugi Nattarayan, Francisco Jaque-Fernández, Raquel Gómez-Oca, A. Menuet - Molecular Therapy, 2021

Cited by 30 Semantic Scholar

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

Eve Fouarge, A. Monseur, B. Boulanger, M. Annoussamy, A. Seferian - Orphanet Journal of Rare Diseases, 2021

Cited by 28 Semantic Scholar

Research Topics

Cellular transport and secretion (47) Muscle Physiology and Disorders (35) Cardiomyopathy and Myosin Studies (22) Genetic Neurodegenerative Diseases (15) Ubiquitin and proteasome pathways (11)

Frequent Co-Authors

Jocelyn Laporte

10 joint publications

Ivana Prokic

4 joint publications

Meagan J. McGrath

4 joint publications

Denny L. Cottle

4 joint publications

Christina A. Mitchell

4 joint publications

Christine Kretz

4 joint publications

Affiliations

Boston Children's Hospital

US 2022 - 2022

Centre National de la Recherche Scientifique

FR 2022 - 2010

Inserm

FR 2022 - 2010

Collège de France

FR 2014 - 2011

Peter MacCallum Cancer Centre

AU 2013 - 2013

External Profiles

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Back to Researchers

Belinda S. Cowling

Publication & Citation Trends

Most Cited Works

Publications

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

BIN1 modulation in vivo rescues dynamin-related myopathy OA

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

O.02 The phenotypic spectrum of DNM2-related centronuclear myopathy

P.121 Dnm2 reduction combined with dystrophin re-expression ameliorates the myopathic phenotype observed in the D2-mdx model of Duchenne muscular dystrophy

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy OA

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

CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES

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

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

Research Topics

Frequent Co-Authors

Affiliations

External Profiles

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