Sarcomere Dysfunction in Nemaline Myopathy

Por de Winter, Josine M., Ottenheijm, Coen A.C.
Publicado no J Neuromuscul Dis (2017)

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

Por Lee, Eun-Jeong, De Winter, Josine M., Buck, Danielle, Jasper, Jeffrey R., Malik, Fady I., Labeit, Siegfried, Ottenheijm, Coen A., Granzier, Henk
Publicado em 2013

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

Por de Winter, Josine M, Joureau, Barbara, Sequeira, Vasco, Clarke, Nigel F, van der Velden, Jolanda, Stienen, Ger JM, Granzier, Henk, Beggs, Alan H, Ottenheijm, Coen AC
Publicado no Skelet Muscle (2015)

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

Por de Winter, Josine Marieke, Buck, Danielle, Hidalgo, Carlos, Jasper, Jeffrey R, Malik, Fady I, Clarke, Nigel F, Stienen, Ger J M, Lawlor, Michael W, Beggs, Alan H, Ottenheijm, Coen A C, Granzier, Henk
Publicado em 2013

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

Por Li, Frank, Buck, Danielle, De Winter, Josine, Kolb, Justin, Meng, Hui, Birch, Camille, Slater, Rebecca, Escobar, Yael Natelie, Smith, John E., Yang, Lin, Konhilas, John, Lawlor, Michael W., Ottenheijm, Coen, Granzier, Henk L.
Publicado no Hum Mol Genet (2015)

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

Por 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
Publicado em 2013

Muscle weakness in TPM3-myopathy is due to reduced Ca(2+)-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

Por 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.
Publicado no Hum Mol Genet (2015)

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

Por Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
Publicado no Acta Neuropathol Commun (2014)

Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

Por de Winter, Josine M., 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., van Engelen, Baziel G., Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.
Publicado no Ann Neurol (2016)