Nebulin: big protein with big responsibilities
Yuen, Michaela, Ottenheijm, Coen A. C.
Published in Journal of muscle research and cell motility (01.03.2020)
Published in Journal of muscle research and cell motility (01.03.2020)
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Journal Article
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
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
Published in European journal of human genetics : EJHG (01.04.2022)
Published in European journal of human genetics : EJHG (01.04.2022)
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Journal Article
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
Katz, Matthew, Waddell, Leigh B, Yuen, Michaela, Bryen, Samantha J, Oates, Emily, Garton, Fleur C, Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T, McCombe, Pamela A
Published in Frontiers in neurology (27.01.2023)
Published in Frontiers in neurology (27.01.2023)
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Journal Article
The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus
Serebryannyy, Leonid A, Yuen, Michaela, Parilla, Megan, Cooper, Sandra T, de Lanerolle, Primal
Published in Frontiers in physiology (07.10.2016)
Published in Frontiers in physiology (07.10.2016)
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Journal Article
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
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.
Published in HGG advances (13.10.2022)
Published in HGG advances (13.10.2022)
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Journal Article
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint
Zhang, Katharine Y, Joshi, Himanshu, Marchant, Rhett G, Bryen, Samantha J, Dawes, Ruebena, Yuen, Michaela, Cooper, Sandra T, Evesson, Frances J
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Journal Article
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome
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
Published in Neurology (04.10.2016)
Published in Neurology (04.10.2016)
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Journal Article
KBTBD13 is an actin-binding protein that modulates muscle kinetics
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
Published in The Journal of clinical investigation (01.02.2024)
Published in The Journal of clinical investigation (01.02.2024)
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Journal Article
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
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
Published in Human molecular genetics (15.11.2015)
Published in Human molecular genetics (15.11.2015)
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Journal Article
Mutation-specific effects on thin filament length in thin filament myopathy
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.
Published in Annals of neurology (01.06.2016)
Published in Annals of neurology (01.06.2016)
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Journal Article
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)
Joureau, Barbara, de Winter, Josine Marieke, Conijn, Stefan, Bogaards, Sylvia J. P., Kovacevic, Igor, Kalganov, Albert, Persson, Malin, Lindqvist, Johan, Stienen, Ger J. M., Irving, Thomas C., Ma, Weikang, Yuen, Michaela, Clarke, Nigel F., Rassier, Dilson E., Malfatti, Edoardo, Romero, Norma B., Beggs, Alan H., Ottenheijm, Coen A. C.
Published in Annals of neurology (01.02.2018)
Published in Annals of neurology (01.02.2018)
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Journal Article
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function
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.
Published in Acta neuropathologica (01.09.2015)
Published in Acta neuropathologica (01.09.2015)
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Journal Article
Lmod2 is necessary for effective skeletal muscle contraction
Larrinaga, Tania M, Farman, Gerrie P, Mayfield, Rachel M, Yuen, Michaela, Ahrens-Nicklas, Rebecca C, Cooper, Sandra T, Pappas, Christopher T, Gregorio, Carol C
Published in Science advances (15.03.2024)
Published in Science advances (15.03.2024)
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Journal Article
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy
Joureau, Barbara, de Winter, Josine Marieke, Conijn, Stefan, Bogaards, Sylvia J. P., Kovacevic, Igor, Kalganov, Albert, Persson, Malin, Lindqvist, Johan, Stienen, Ger J. M., Irving, Thomas C., Ma, Weikang, Yuen, Michaela, Clarke, Nigel F., Rassier, Dilson E., Malfatti, Edoardo, Romero, Norma B., Beggs, Alan H., Ottenheijm, Coen A. C.
Published in Annals of neurology (01.02.2018)
Published in Annals of neurology (01.02.2018)
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Journal Article
Muscle weakness in TPM3 -myopathy is due to reduced Ca 2+ -sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
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.
Published in Human molecular genetics (15.11.2015)
Published in Human molecular genetics (15.11.2015)
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Journal Article
Muscle weakness in TPM3-myopathy is due to reduced Ca super(2+)-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
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 AC, Clarke, Nigel F
Published in Human molecular genetics (15.11.2015)
Published in Human molecular genetics (15.11.2015)
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Journal Article
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
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
Published in The Journal of clinical investigation (01.01.2015)
Published in The Journal of clinical investigation (01.01.2015)
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Journal Article
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
Katz, Matthew, Waddell, Leigh B, Yuen, Michaela, Bryen, Samantha J, Oates, Emily, Garton, Fleur C, Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T, McCombe, Pamela A
Published in Frontiers in neurology (01.01.2023)
Published in Frontiers in neurology (01.01.2023)
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