OpenURL Connection Search

Select item for more details and to access through your institution.

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.
Published in:
Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0037-7
By:
- de Winter, Josine M.;
- Joureau, Barbara;
- Sequeira, Vasco;
- Clarke, Nigel F.;
- van der Velden, Jolanda;
- Stienen, Ger J. M.;
- Granzier, Henk;
- Beggs, Alan H.;
- Ottenheijm, Coen A. C.
Publication type:
Article
Fast Skeletal Muscle Troponin Activation Increases Force of Mouse Fast Skeletal Muscle and Ameliorates Weakness Due to Nebulin-Deficiency.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055861
By:
- Lee, Eun-Jeong;
- De Winter, Josine M.;
- Buck, Danielle;
- Jasper, Jeffrey R.;
- Malik, Fady I.;
- Labeit, Siegfried;
- Ottenheijm, Coen A.;
- Granzier, Henk
Publication type:
Article
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1718, doi. 10.1093/brain/awt113
By:
- Ottenheijm, Coen A. C.;
- Buck, Danielle;
- de Winter, Josine M.;
- Ferrara, Claudia;
- Piroddi, Nicoletta;
- Tesi, Chiara;
- Jasper, Jeffrey R.;
- Malik, Fady I.;
- Meng, Hui;
- Stienen, Ger J. M.;
- Beggs, Alan H.;
- Labeit, Siegfried;
- Poggesi, Corrado;
- Lawlor, Michael W.;
- Granzier, Henk
Publication type:
Article
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
Published in:
2021
By:
- van de Locht, Martijn;
- Donkervoort, Sandra;
- de Winter, Josine M.;
- Conijn, Stefan;
- Begthel, Leon;
- Kusters, Benno;
- Mohasse, Payam;
- Ying Hu;
- Medne, Livija;
- Quinn, Colin;
- Moore, Steven A.;
- Foley, A. Reghan;
- Gwimoon Seo;
- Hwee, Darren T.;
- Malik, Fady I.;
- Irving, Thomas;
- Weikang Ma;
- Granzier, Henk L.;
- Kamsteeg, Erik-Jan;
- Immadisetty, Kalyan
Publication type:
journal article
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Published in:
2020
By:
- de Winter, Josine M.;
- Molenaar, Joery P.;
- Yuen, Michaela;
- van der Pijl, Robbert;
- Shen, Shengyi;
- Conijn, Stefan;
- van de Locht, Martijn;
- Willigenburg, Menne;
- Bogaards, Sylvia J. P.;
- van Kleef, Esmee S. B.;
- Lassche, Saskia;
- Persson, Malin;
- Rassier, Dilson E.;
- Sztal, Tamar E.;
- Ruparelia, Avnika A.;
- Oorschot, Viola;
- Ramm, Georg;
- Hall, Thomas E.;
- Zherui Xiong;
- Johnson, Christopher N.
Publication type:
journal article
Mutation-specific effects on thin filament length in thin filament myopathy.
Published in:
2016
By:
- Winter, Josine M. de;
- Joureau, Barbara;
- Lee, Eun‐Jeong;
- Kiss, Balázs;
- Yuen, Michaela;
- Gupta, Vandana A.;
- Pappas, Christopher T.;
- Gregorio, Carol C.;
- Stienen, Ger J. M.;
- Edvardson, Simon;
- Wallgren‐Pettersson, Carina;
- Lehtokari, Vilma‐Lotta;
- Pelin, Katarina;
- Malfatti, Edoardo;
- Romero, Norma B.;
- Engelen, Baziel G. van;
- Voermans, Nicol C.;
- Donkervoort, Sandra;
- Bönnemann, C. G.;
- Clarke, Nigel F.
Publication type:
journal article
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Published in:
2015
By:
- Donkervoort, Sandra;
- Papadaki, Maria;
- de Winter, Josine M.;
- Neu, Matthew B.;
- Kirschner, Janbernd;
- Bolduc, Véronique;
- Yang, Michele L.;
- Gibbons, Melissa A.;
- Hu, Ying;
- Dastgir, Jahannaz;
- Leach, Meganne E.;
- Rutkowski, Anne;
- Foley, A. Reghan;
- Krüger, Marcus;
- Wartchow, Eric P.;
- McNamara, Elyshia;
- Ong, Royston;
- Nowak, Kristen J.;
- Laing, Nigel G.;
- Clarke, Nigel F.
Publication type:
journal article
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 14, p. 1305, doi. 10.1093/hmg/ddab112
By:
- Winter, Josine M de;
- Gineste, Charlotte;
- Minardi, Elisa;
- Brocca, Lorenza;
- Rossi, Maira;
- Borsboom, Tamara;
- Beggs, Alan H;
- Bernard, Monique;
- Bendahan, David;
- Hwee, Darren T;
- Malik, Fady I;
- Pellegrino, Maria Antonietta;
- Bottinelli, Roberto;
- Gondin, Julien;
- Ottenheijm, Coen A C
Publication type:
Article
Muscle weakness in TPM3-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 22, p. 6278, doi. 10.1093/hmg/ddv334
By:
- Yuen, Michaela;
- Cooper, Sandra T.;
- Marston, Steve B.;
- Nowak, Kristen J.;
- McNamara, Elyshia;
- Mokbel, Nancy;
- Ilkovski, Biljana;
- Ravenscroft, Gianina;
- Rendu, John;
- de Winter, Josine M.;
- Klinge, Lars;
- Beggs, Alan H.;
- North, Kathryn N.;
- Ottenheijm, Coen A. C.;
- Clarke, Nigel F.
Publication type:
Article
KBTBD13 is a novel cardiomyopathy gene.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1860, doi. 10.1002/humu.24499
By:
- de Winter, Josine M.;
- Bouman, Karlijn;
- Strom, Joshua;
- Methawasin, Mei;
- Jongbloed, Jan D. H.;
- van der Roest, Wilma;
- Wijngaarden, Jan van;
- Timmermans, Janneke;
- Nijveldt, Robin;
- van den Heuvel, Frederik;
- Kamsteeg, Erik‐Jan;
- van Engelen, Baziel G.;
- Galli, Ricardo;
- Bogaards, Sylvia J. P.;
- Boon, Reinier A.;
- van der Pijl, Robbert J.;
- Granzier, Henk;
- Koeleman, Bobby;
- Amin, Ahmad S.;
- van der Velden, Jolanda
Publication type:
Article
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Published in:
Science Translational Medicine, 2024, v. 16, n. 741, p. 1, doi. 10.1126/scitranslmed.adg2841
By:
- Donkervoort, Sandra;
- van de Locht, Martijn;
- Ronchi, Dario;
- Reunert, Janine;
- McLean, Catriona A.;
- Zaki, Maha;
- Orbach, Rotem;
- de Winter, Josine M.;
- Conijn, Stefan;
- Hoomoedt, Daan;
- Neto, Osorio Lopes Abath;
- Magri, Francesca;
- Viaene, Angela N.;
- Foley, A. Reghan;
- Gorokhova, Svetlana;
- Bolduc, Véronique;
- Hu, Ying;
- Acquaye, Nicole;
- Napoli, Laura;
- Park, Julien H.
Publication type:
Article

Found: 11