Josine M. de Winter

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Edoardo Malfatti, Vilma‐Lotta Lehtokari, Johann Böhm et al. · Acta Neuropathologica Communications · 2014 · 91 citations · Full text

Mutation‐specific effects on thin filament length in thin filament myopathy

Josine M. de Winter, Barbara Joureau, Eun‐Jeong Lee et al. · Annals of Neurology · 2016 · 70 citations · Full text

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

Coen A. C. Ottenheijm, Danielle Buck, Josine M. de Winter et al. · Brain · 2013 · 63 citations · Full text

Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca²⁺-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

Michaela Yuen, Sandra T. Cooper, Steven B. Marston et al. · Human Molecular Genetics · 2015 · 55 citations · Full text

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

Josine M. de Winter, Danielle Buck, Carlos Hidalgo et al. · Journal of Medical Genetics · 2013 · 49 citations · Full text