檢索結果 - Yuen, Michaela

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

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The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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