Josine M de Winter

发表

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

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

C. Ottenheijm, C. Bönnemann, N. Laing, 2015, Annals of neurology.

Sarcomere Dysfunction in Nemaline Myopathy

C. Ottenheijm, J. D. de Winter, Josine M de Winter, 2017, Journal of neuromuscular diseases.

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

C. Ottenheijm, H. Granzier, Camille L. Birch, 2015, Human molecular genetics.

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

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015, Human molecular genetics.

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice

C. Ottenheijm, A. Beggs, L. Brocca, 2021, Human molecular genetics.

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

T. Irving, L. Medne, C. Ottenheijm, 2021, The Journal of clinical investigation.

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene

C. Ottenheijm, A. Beggs, N. Clarke, 2015, Skeletal Muscle.

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

C. Ottenheijm, A. Beggs, N. Clarke, 2013, Journal of Medical Genetics.

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Christopher N. Johnson, R. Bryson-Richardson, R. Rodenburg, 2020, The Journal of clinical investigation.

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.

E. Malfatti, C. Ottenheijm, N. Romero, 2021, Journal of neuropathology and experimental neurology.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)

T. Irving, E. Malfatti, C. Ottenheijm, 2018, Annals of neurology.

Fast Skeletal Muscle Troponin Activation Increases Force of Mouse Fast Skeletal Muscle and Ameliorates Weakness Due to Nebulin-Deficiency

C. Ottenheijm, J. Jasper, H. Granzier, 2013, PloS one.

P.9.10 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

C. Ottenheijm, A. Beggs, C. Poggesi, 2013, Neuromuscular Disorders.

Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits

C. Ottenheijm, H. Granzier, S. Labeit, 2022, International journal of molecular sciences.

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 on Ca2+ sensitivity in rat fast-twitch muscle fibers.

C. Ottenheijm, J. D. de Winter, Josine M de Winter, 2017, American journal of physiology. Cell physiology.