Articles with public access mandates - Belinda CowlingLearn more
Not available anywhere: 1
Different in vivo impacts of dynamin 2 mutations implicated in Charcot–Marie–Tooth neuropathy or centronuclear myopathy
X Massana Muñoz, S Buono, P Koebel, J Laporte, BS Cowling
Human Molecular Genetics 28 (24), 4067-4077, 2019
Mandates: National Institute of Health and Medical Research, France, Agence Nationale …
Available somewhere: 34
Amphiphysin 2 (BIN1) in physiology and diseases
I Prokic, BS Cowling, J Laporte
Journal of molecular medicine 92, 453-463, 2014
Mandates: National Institute of Health and Medical Research, France
The caveolin–cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle
HP Lo, SJ Nixon, TE Hall, BS Cowling, C Ferguson, GP Morgan, ...
Journal of Cell Biology 210 (5), 833-849, 2015
Mandates: US National Institutes of Health, National Health and Medical Research …
Reciprocal effects on neurocognitive and metabolic phenotypes in mouse models of 16p11. 2 deletion and duplication syndromes
T Arbogast, AM Ouagazzal, C Chevalier, M Kopanitsa, N Afinowi, ...
PLoS genetics 12 (2), e1005709, 2016
Mandates: Swiss National Science Foundation, National Institute of Health and Medical …
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
BS Cowling, T Chevremont, I Prokic, C Kretz, A Ferry, C Coirault, ...
The Journal of clinical investigation 124 (3), 1350-1363, 2014
Mandates: National Institute of Health and Medical Research, France
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
A Toussaint, BS Cowling, K Hnia, M Mohr, A Oldfors, Y Schwab, U Yis, ...
Acta neuropathologica 121, 253-266, 2011
Mandates: National Institute of Health and Medical Research, France
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness
BS Cowling, A Toussaint, L Amoasii, P Koebel, A Ferry, L Davignon, ...
The American journal of pathology 178 (5), 2224-2235, 2011
Mandates: National Institute of Health and Medical Research, France
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
BS Cowling, I Prokic, H Tasfaout, A Rabai, F Humbert, B Rinaldi, AS Nicot, ...
The Journal of clinical investigation 127 (12), 4477-4487, 2017
Mandates: National Institute of Health and Medical Research, France
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo
L Amoasii, K Hnia, G Chicanne, A Brech, BS Cowling, MM Müller, ...
Journal of cell science 126 (8), 1806-1819, 2013
Mandates: National Institute of Health and Medical Research, France
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy
J Böhm, N Vasli, M Maurer, B Cowling, GD Shelton, W Kress, A Toussaint, ...
PLoS genetics 9 (6), e1003430, 2013
Mandates: US National Institutes of Health, National Institute of Health and Medical …
Defective membrane remodeling in neuromuscular diseases: insights from animal models
BS Cowling, A Toussaint, J Muller, J Laporte
PLoS genetics 8 (4), e1002595, 2012
Mandates: National Institute of Health and Medical Research, France
WANTED–Dead or alive: Myotubularins, a large disease-associated protein family
MA Raess, S Friant, BS Cowling, J Laporte
Advances in biological regulation 63, 49-58, 2017
Mandates: National Institute of Health and Medical Research, France
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
L Amoasii, DL Bertazzi, H Tronchère, K Hnia, G Chicanne, B Rinaldi, ...
Public Library of Science 8 (10), e1002965, 2012
Mandates: National Institute of Health and Medical Research, France
Regulation of the transcriptional coactivator FHL2 licenses activation of the androgen receptor in castrate-resistant prostate cancer
MJ McGrath, LC Binge, A Sriratana, H Wang, PA Robinson, D Pook, ...
Cancer research 73 (16), 5066-5079, 2013
Mandates: National Health and Medical Research Council, Australia
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy
S Buono, JA Ross, H Tasfaout, Y Levy, C Kretz, L Tayefeh, J Matson, ...
Proceedings of the National Academy of Sciences 115 (43), 11066-11071, 2018
Mandates: National Institute of Health and Medical Research, France, UK Medical …
Centronuclear myopathies under attack: a plethora of therapeutic targets
H Tasfaout, BS Cowling, J Laporte
Journal of neuromuscular diseases 5 (4), 387-406, 2018
Mandates: National Institute of Health and Medical Research, France
Common pathogenic mechanisms in centronuclear and myotubular myopathies and latest treatment advances
R Gómez-Oca, BS Cowling, J Laporte
International journal of molecular sciences 22 (21), 11377, 2021
Mandates: National Institute of Health and Medical Research, France
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice
VM Lionello, AS Nicot, M Sartori, C Kretz, P Kessler, S Buono, S Djerroud, ...
Science Translational Medicine 11 (484), eaav1866, 2019
Mandates: National Institute of Health and Medical Research, France, Agence Nationale …
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
E Gayi, LA Neff, X Massana Muñoz, HM Ismail, M Sierra, T Mercier, ...
Nature communications 9 (1), 4848, 2018
Mandates: National Institute of Health and Medical Research, France, European Commission
Allele-specific CRISPR/Cas9 correction of a heterozygous DNM2 mutation rescues centronuclear myopathy cell phenotypes
A Rabai, L Reisser, B Reina-San-Martin, K Mamchaoui, BS Cowling, ...
Molecular Therapy-Nucleic Acids 16, 246-256, 2019
Mandates: National Institute of Health and Medical Research, France, Agence Nationale …
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