Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics von van de Locht, Martijn, Borsboom, Tamara C., Winter, Josine M., Ottenheijm, Coen A. C.

Volltext

KBTBD13 is an actin-binding protein that modulates muscle kinetics von 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 Jp, van Kleef, Esmee Sb, Lassche, Saskia, Persson, Malin, Rassier, Dilson E, Sztal, Tamar E, Ruparelia, Avnika A, Oorschot, Viola, Ramm, Georg, Hall, Thomas E, Xiong, Zherui, Johnson, Christopher N, Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A, Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J, Küsters, Benno, Doorduin, Jonne, Beggs, Alan H, Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B, Bryson-Richardson, Robert J, van Engelen, Baziel Gm, Voermans, Nicol C, Ottenheijm, Coen Ac

Volltext

Mutation-specific effects on thin filament length in thin filament myopathy von 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., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.

Volltext

KBTBD13 is a novel cardiomyopathy gene von Winter, Josine M., Bouman, Karlijn, Strom, Joshua, Methawasin, Mei, Jongbloed, Jan D. H., Roest, Wilma, Wijngaarden, Jan van, Timmermans, Janneke, Nijveldt, Robin, Heuvel, Frederik, Kamsteeg, Erik‐Jan, Engelen, Baziel G., Galli, Ricardo, Bogaards, Sylvia J. P., Boon, Reinier A., Pijl, Robbert J., Granzier, Henk, Koeleman, Bobby, Amin, Ahmad S., Velden, Jolanda, Tintelen, J. Peter, Berg, Maarten P., Spaendonck‐Zwarts, Karin Y., Voermans, Nicol C., Ottenheijm, Coen A. C.

Volltext

Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency von Lee, Eun-Jeong, De Winter, Josine M, Buck, Danielle, Jasper, Jeffrey R, Malik, Fady I, Labeit, Siegfried, Ottenheijm, Coen A, Granzier, Henk

Volltext

Small molecule drugs to improve sarcomere function in those with acquired and inherited myopathies von Claassen, Wout J, Baelde, Rianne J, Galli, Ricardo A, de Winter, Josine M, Ottenheijm, Coen A C

Volltext

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice von de Winter, Josine M, 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

Volltext

KBTBD13 is an actin-binding protein that modulates muscle kinetics von 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., Xiong, Zherui, Johnson, Christopher N., Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A., Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J., Kusters, Benno, Doorduin, Jonne, Beggs, Alan H., Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B., Bryson-Richardson, Robert J., van Engelen, Baziel G. M., Voermans, Nicol C., Ottenheijm, Coen A. C.

Volltext

Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy von Galli, Ricardo A, Borsboom, Tamara C, Gineste, Charlotte, Brocca, Lorenza, Rossi, Maira, Hwee, Darren T, Malik, Fady I, Bottinelli, Roberto, Gondin, Julien, Pellegrino, Maria-Antonietta, de Winter, Josine M, Ottenheijm, Coen A C

Volltext

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 C... von de Winter, Josine M, Ottenheijm, Coen A C

Volltext

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... von de Winter, Josine M, Ottenheijm, Coen A C

Volltext

Sarcomere Dysfunction in Nemaline Myopathy von de Winter, Josine M., Ottenheijm, Coen A.C.

Volltext

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium von van de Locht, Martijn, Donkervoort, Sandra, de Winter, Josine M., Conijn, Stefan, Begthel, Leon, Kusters, Benno, Mohassel, Payam, Hu, Ying, Medne, Livija, Quinn, Colin, Moore, Steven A., Foley, A. Reghan, Seo, Gwimoon, Hwee, Darren T., Malik, Fady, Irving, Thomas, Ma, Weikang, Granzier, Henk L., Kamsteeg, Erik-Jan, Immadisetty, Kalyan, Kekenes-Huskey, Peter, Pinto, Jose R., Voermans, Nicol, Bonnemann, Carsten G., Ottenheijm, Coen A. C.

Volltext

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material von Bouman, Karlijn, Küsters, Benno, De Winter, Josine M, Gillet, Cynthia, Van Kleef, Esmee S B, Eshuis, Lilian, Brochier, Guy, Madelaine, Angeline, Labasse, Clémence, Boulogne, Claire, Van Engelen, Baziel G M, Ottenheijm, Coen A C, Romero, Norma B, Voermans, Nicol C, Malfatti, Edoardo

Volltext

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

Volltext

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy von Joureau, Barbara, de Winter, Josine M, Stam, Kelly, Granzier, Henk, Ottenheijm, Coen A.C

Volltext

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype von 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., Ottenheijm, Coen A. C., Marston, Steven B., Bönnemann, Carsten G.

Volltext

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy von OTTENHEIJM, Coen A. C, BUCK, Danielle, BEGGS, Alan H, LABEIT, Siegfried, POGGESI, Corrado, LAWLOR, Michael W, GRANZIER, Henk, DE WINTER, Josine M, FERRARA, Claudia, PIRODDI, Nicoletta, TESI, Chiara, JASPER, Jeffrey R, MALIK, Fady I, HUI MENG, STIENEN, GerJ M

Volltext

Recessive MYH7-related myopathy in two families von Beecroft, Sarah J., van de Locht, Martijn, de Winter, Josine M., Ottenheijm, Coen A., Sewry, Caroline A., Mohammed, Shehla, Ryan, Monique M., Woodcock, Ian R., Sanders, Lauren, Gooding, Rebecca, Davis, Mark R., Oates, Emily C., Laing, Nigel G., Ravenscroft, Gianina, McLean, Catriona A., Jungbluth, Heinz

Volltext

A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6 von van Kleef, Esmee S B, Bouman, Karlijn, Molenaar, Joery P F, de Winter, Josine M, Duijkers, Floor A M, Eftimov, Filip, Verschuuren-Bemelmans, Corien C, van der Laan, Tineke, Küsters, Benno, Malfatti, Edoardo, Kamsteeg, Erik-Jan, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, Voermans, Nicol C

Volltext