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Josine de Winter
Josine de Winter
VU University Medical Center
Verified email at vumc.nl
Title
Cited by
Cited by
Year
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
E Malfatti, VL Lehtokari, J Böhm, JM De Winter, U Schäffer, B Estournet, ...
Acta neuropathologica communications 2, 1-14, 2014
792014
Sarcomere dysfunction in nemaline myopathy
JM de Winter, CAC Ottenheijm
Journal of Neuromuscular Diseases 4 (2), 99-113, 2017
742017
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
CAC Ottenheijm, D Buck, JM de Winter, C Ferrara, N Piroddi, C Tesi, ...
Brain 136 (6), 1718-1731, 2013
672013
Mutation‐specific effects on thin filament length in thin filament myopathy
JM Winter, B Joureau, EJ Lee, B Kiss, M Yuen, VA Gupta, CT Pappas, ...
Annals of neurology 79 (6), 959-969, 2016
642016
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy
F Li, D Buck, J De Winter, J Kolb, H Meng, C Birch, R Slater, YN Escobar, ...
Human molecular genetics 24 (18), 5219-5233, 2015
642015
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
JM de Winter, D Buck, C Hidalgo, JR Jasper, FI Malik, NF Clarke, ...
Journal of medical genetics 50 (6), 383-392, 2013
622013
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype
S Donkervoort, M Papadaki, JM De Winter, MB Neu, J Kirschner, V Bolduc, ...
Annals of neurology 78 (6), 982-994, 2015
492015
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
M Yuen, ST Cooper, SB Marston, KJ Nowak, E McNamara, N Mokbel, ...
Human molecular genetics 24 (22), 6278-6292, 2015
432015
Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency
EJ Lee, JM De Winter, D Buck, JR Jasper, FI Malik, S Labeit, ...
PloS one 8 (2), e55861, 2013
392013
Hormone replacement therapy, body mass, and the risk of colorectal cancer among postmenopausal women from Germany
M Hoffmeister, E Raum, J Winter, J Chang-Claude, H Brenner
British journal of cancer 97 (11), 1486-1492, 2007
392007
KBTBD13 is an actin-binding protein that modulates muscle kinetics
JM De Winter, JP Molenaar, M Yuen, R Van Der Pijl, S Shen, S Conijn, ...
The Journal of clinical investigation 130 (2), 754-767, 2020
332020
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)
B Joureau, JM de Winter, S Conijn, SJP Bogaards, I Kovacevic, ...
Annals of neurology 83 (2), 269-282, 2018
292018
In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype
C Gineste, JM De Winter, C Kohl, CC Witt, B Giannesini, K Brohm, ...
Neuromuscular Disorders 23 (4), 357-369, 2013
292013
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene
JM de Winter, B Joureau, V Sequeira, NF Clarke, J van der Velden, ...
Skeletal muscle 5, 1-10, 2015
272015
Recessive MYH7-related myopathy in two families
SJ Beecroft, M van de Locht, JM de Winter, CA Ottenheijm, CA Sewry, ...
Neuromuscular Disorders 29 (6), 456-467, 2019
162019
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
M van de Locht, S Donkervoort, JM de Winter, S Conijn, L Begthel, ...
The Journal of clinical investigation 131 (9), 2021
152021
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy
B Joureau, JM de Winter, K Stam, H Granzier, CAC Ottenheijm
Neuromuscular Disorders 27 (1), 83-89, 2017
142017
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice
JM de Winter, C Gineste, E Minardi, L Brocca, M Rossi, T Borsboom, ...
Human Molecular Genetics 30 (14), 1305-1320, 2021
132021
NEM6, KBTBD13-related congenital myopathy: myopathological analysis in 18 Dutch patients reveals ring rods fibers, cores, nuclear clumps, and granulo-filamentous protein material
K Bouman, B Küsters, JM De Winter, C Gillet, ESB Van Kleef, L Eshuis, ...
Journal of Neuropathology & Experimental Neurology 80 (4), 366-376, 2021
62021
A two-faced cysteine residue modulates skeletal muscle contraction. Focus on “S-nitrosylation and S-glutathionylation of Cys134 on troponin I have opposing competitive actions …
JM de Winter, CAC Ottenheijm
American Journal of Physiology-Cell Physiology, 2017
52017
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