Výsledky vyhledávání - Yuen, Michaela

Nebulin: big protein with big responsibilities Autor Yuen, Michaela, Ottenheijm, Coen A. C.

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The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus Autor Serebryannyy, Leonid A., Yuen, Michaela, Parilla, Megan, Cooper, Sandra T., de Lanerolle, Primal

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Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant Autor Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.

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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone Autor Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.

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Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome Autor O'Grady, Gina L., Verschuuren, Corien, Yuen, Michaela, Webster, Richard, Menezes, Manoj, Fock, Johanna M., Pride, Natalie, Best, Heather A., Benavides Damm, Tatiana, Turner, Christian, Lek, Monkol, Engel, Andrew G., North, Kathryn N., Clarke, Nigel F., MacArthur, Daniel G., Kamsteeg, Erik-Jan, Cooper, Sandra T.

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Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function Autor Sztal, Tamar E., Zhao, Mo, Williams, Caitlin, Oorschot, Viola, Parslow, Adam C., Giousoh, Aminah, Yuen, Michaela, Hall, Thomas E., Costin, Adam, Ramm, Georg, Bird, Phillip I., Busch-Nentwich, Elisabeth M., Stemple, Derek L., Currie, Peter D., Cooper, Sandra T., Laing, Nigel G., Nowak, Kristen J., Bryson-Richardson, Robert J.

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

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KBTBD13 is an actin-binding protein that modulates muscle kinetics Autor 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., 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 G.M., Voermans, Nicol C., Ottenheijm, Coen A.C.

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy Autor Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy Autor Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.

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