Результаты поиска - Lek, Angela

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins по Lek, Angela, Lek, Monkol, North, Kathryn N, Cooper, Sandra T

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Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy по Cohen, Justin, DeSimone, Alec, Lek, Monkol, Lek, Angela

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Emerging preclinical animal models for FSHD по Lek, Angela, Rahimov, Fedik, Jones, Peter L., Kunkel, Louis M.

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Cellular and animal models for facioscapulohumeral muscular dystrophy по DeSimone, Alec M., Cohen, Justin, Lek, Monkol, Lek, Angela

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Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P по Woolger, Natalie, Bournazos, Adam, Sophocleous, Reece A., Evesson, Frances J., Lek, Angela, Driemer, Birgit, Sutton, R. Bryan, Cooper, Sandra T.

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Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway по 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.

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Calpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair по 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.

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Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis по 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

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A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies по 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.

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MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms по 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.

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Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy по 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.

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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 по 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.

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome по 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

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