檢索結果 - Lin, Yung‐Yao

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies 由 Lin, Yung-Yao, White, Richard J., Torelli, Silvia, Cirak, Sebahattin, Muntoni, Francesco, Stemple, Derek L.

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Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections 由 Paredes-Redondo, Amaia, Harley, Peter, Maniati, Eleni, Ryan, David, Louzada, Sandra, Meng, Jinhong, Kowala, Anna, Fu, Beiyuan, Yang, Fengtang, Liu, Pentao, Marino, Silvia, Pourquié, Olivier, Muntoni, Francesco, Wang, Jun, Lieberam, Ivo, Lin, Yung-Yao

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Nuclear Respiratory Factor 1 Overexpression Inhibits Proliferation and Migration of PC3 Prostate Cancer Cells 由 WU, CHUN-HSIEN, HSIEH, PEI-FANG, LEE, YEN-HSI, KUO, WADE WEI-TING, WU, RICHARD CHEN-YU, LIN, YUNG-YAO, HUNG, CHIH-HSIN, HSIEH, MING-LIN, PANG, SEE-TONG, YANG, YU-LIN, LIN, VICTOR C.

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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy 由 Chesshyre, Mary, Ridout, Deborah, Hashimoto, Yasumasa, Ookubo, Yoko, Torelli, Silvia, Maresh, Kate, Ricotti, Valeria, Abbott, Lianne, Gupta, Vandana Ayyar, Main, Marion, Ferrari, Giulia, Kowala, Anna, Lin, Yung‐Yao, Tedesco, Francesco Saverio, Scoto, Mariacristina, Baranello, Giovanni, Manzur, Adnan, Aoki, Yoshitsugu, Muntoni, Francesco

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The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition 由 Praissman, Jeremy L, Willer, Tobias, Sheikh, M Osman, Toi, Ants, Chitayat, David, Lin, Yung-Yao, Lee, Hane, Stalnaker, Stephanie H, Wang, Shuo, Prabhakar, Pradeep Kumar, Nelson, Stanley F, Stemple, Derek L, Moore, Steven A, Moremen, Kelley W, Campbell, Kevin P, Wells, Lance

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Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome 由 Buysse, Karen, Riemersma, Moniek, Powell, Gareth, van Reeuwijk, Jeroen, Chitayat, David, Roscioli, Tony, Kamsteeg, Erik-Jan, van den Elzen, Christa, van Beusekom, Ellen, Blaser, Susan, Babul-Hirji, Riyana, Halliday, William, Wright, Gavin J., Stemple, Derek L., Lin, Yung-Yao, Lefeber, Dirk J., van Bokhoven, Hans

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A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan 由 Kim, Jihee, Lana, Beatrice, Torelli, Silvia, Ryan, David, Catapano, Francesco, Ala, Pierpaolo, Luft, Christin, Stevens, Elizabeth, Konstantinidis, Evangelos, Louzada, Sandra, Fu, Beiyuan, Paredes‐Redondo, Amaia, Chan, AW Edith, Yang, Fengtang, Stemple, Derek L, Liu, Pentao, Ketteler, Robin, Selwood, David L, Muntoni, Francesco, Lin, Yung‐Yao

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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan 由 Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco

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Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC-derived neural stem cells in glioblastoma 由 Vinel, Claire, Rosser, Gabriel, Guglielmi, Loredana, Constantinou, Myrianni, Pomella, Nicola, Zhang, Xinyu, Boot, James R., Jones, Tania A., Millner, Thomas O., Dumas, Anaelle A., Rakyan, Vardhman, Rees, Jeremy, Thompson, Jamie L., Vuononvirta, Juho, Nadkarni, Suchita, El Assan, Tedani, Aley, Natasha, Lin, Yung-Yao, Liu, Pentao, Nelander, Sven, Sheer, Denise, Merry, Catherine L. R., Marelli-Berg, Federica, Brandner, Sebastian, Marino, Silvia

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan 由 Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco

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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan 由 Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans

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