| 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 | 78 | 2014 |
| Sarcomere dysfunction in nemaline myopathy JM de Winter, CAC Ottenheijm Journal of Neuromuscular Diseases 4 (2), 99-113, 2017 | 74 | 2017 |
| 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 | 66 | 2015 |
| 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 | 66 | 2013 |
| 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 | 62 | 2016 |
| 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 | 60 | 2013 |
| 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 | 47 | 2015 |
| 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 | 45 | 2015 |
| 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 | 39 | 2013 |
| 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 | 38 | 2007 |
| 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 | 34 | 2020 |
| 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 | 32 | 2018 |
| 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 | 29 | 2013 |
| 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 | 26 | 2015 |
| 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 | 16 | 2021 |
| 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 | 16 | 2019 |
| 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 | 15 | 2017 |
| 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 | 13 | 2021 |
| 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 | 6 | 2021 |
| Small molecule drugs to improve sarcomere function in those with acquired and inherited myopathies WJ Claassen, RJ Baelde, RA Galli, JM de Winter, CAC Ottenheijm American Journal of Physiology-Cell Physiology 325 (1), C60-C68, 2023 | 5 | 2023 |
