Αποτελέσματα αναζήτησης - Lek, Angela
- Εμφανίζονται 1 - 13 Αποτελέσματα από 13
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Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P από Woolger, Natalie, Bournazos, Adam, Sophocleous, Reece A., Evesson, Frances J., Lek, Angela, Driemer, Birgit, Sutton, R. Bryan, Cooper, Sandra T.
Έκδοση 2017Κείμενο -
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Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway από Evesson, Frances J., Peat, Rachel A., Lek, Angela, Brilot, Fabienne, Lo, Harriet P., Dale, Russell C., Parton, Robert G., North, Kathryn N., Cooper, Sandra T.
Έκδοση 2010Κείμενο -
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Calpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair από Lek, Angela, Evesson, Frances J., Lemckert, Frances A., Redpath, Gregory M. I., Lueders, Ann-Katrin, Turnbull, Lynne, Whitchurch, Cynthia B., North, Kathryn N., Cooper, Sandra T.
Έκδοση 2013Κείμενο -
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Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis από Pakula, Anna, Lek, Angela, Widrick, Jeffrey, Mitsuhashi, Hiroaki, Bugda Gwilt, Katlynn M, Gupta, Vandana A, Rahimov, Fedik, Criscione, June, Zhang, Yuanfan, Gibbs, Devin, Murphy, Quinn, Manglik, Anusha, Mead, Lillian, Kunkel, Louis
Έκδοση 2019Κείμενο -
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A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies από Serafini, Peter R., Feyder, Michael J., Hightower, Rylie M., Garcia-Perez, Daniela, Vieira, Natássia M., Lek, Angela, Gibbs, Devin E., Moukha-Chafiq, Omar, Augelli-Szafran, Corinne E., Kawahara, Genri, Widrick, Jeffrey J., Kunkel, Louis M., Alexander, Matthew S.
Έκδοση 2018Κείμενο -
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MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms από Alexander, Matthew S., Casar, Juan Carlos, Motohashi, Norio, Vieira, Natássia M., Eisenberg, Iris, Marshall, Jamie L., Gasperini, Molly J., Lek, Angela, Myers, Jennifer A., Estrella, Elicia A., Kang, Peter B., Shapiro, Frederic, Rahimov, Fedik, Kawahara, Genri, Widrick, Jeffrey J., Kunkel, Louis M.
Έκδοση 2014Κείμενο -
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Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy από Lek, Angela, Zhang, Yuanfan, Woodman, Keryn G., Huang, Shushu, DeSimone, Alec M., Cohen, Justin, Ho, Vincent, Conner, James, Mead, Lillian, Kodani, Andrew, Pakula, Anna, Sanjana, Neville, King, Oliver D., Jones, Peter L., Wagner, Kathryn R., Lek, Monkol, Kunkel, Louis M.
Έκδοση 2020Κείμενο -
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Dysferlin, Annexin A1 and Mitsugumin-53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System with Stretch από Waddell, Leigh B., Lemcket, Frances A., Zheng, Xi F., Tran, Jenny, Evesson, Frances J., Hawkes, Joanne M., Lek, Angela, Street, Neil E., Lin, Peihui, Clarke, Nigel F., Landstrom, Andrew P., Ackerman, Michael J., Weisleder, Noah, Ma, Jianjie, North, Kathryn N., Cooper, Sandra T.
Έκδοση 2011Κείμενο -
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome από Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E
Έκδοση 2017Κείμενο