Хайлтын үр дүнгүүд - Yung‐Yao Lin
- 7-н 1 - 7 үр дүнгүүдийг харуулж байна
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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy -н Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giuliana Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Хэвлэсэн 2022Artigo -
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The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition -н Jeremy L. Praissman, Tobias Willer, M. Osman Sheikh, Ants Toi, David Chitayat, Yung‐Yao Lin, Hane Lee, Stephanie H. Stalnaker, Shuo Wang, Pradeep Kumar Prabhakar, Stanley F. Nelson, Derek L. Stemple, Steven A. Moore, Kelley W. Moremen, Kevin P. Campbell, Lance Wells
Хэвлэсэн 2016Artigo -
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Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome -н Karen Buysse, Moniek Riemersma, Gareth T. Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik‐Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blasér, Riyana Babul‐Hirji, W Halliday, Gavin J. Wright, Derek L. Stemple, Yung‐Yao Lin, Dirk J. Lefeber, Hans van Bokhoven
Хэвлэсэн 2013Artigo -
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan -н Elizabeth Stevens, Keren Carss, Sebahattin Çirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Göknur Haliloğlu, Dıclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew E. Hurles, Kevin P. Campbell, M. Chiara Manzini, Derek L. Stemple, Yung‐Yao Lin, Francesco Muntoni
Хэвлэсэн 2013Artigo -
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan -н Keren Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Çirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A. Moore, Sonia Messina, Enrico Bertini, Carsten G. Bönnemann, José E. Abdenur, Carla Grosmann, Akanchha Kesari, Jaya Punetha, Rosaline C. M. Quinlivan, Leigh B. Waddell, Helen Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline A. Sewry, Daniel G. MacArthur, Kathryn N. North, Eric P. Hoffman, Derek L. Stemple, Matthew E. Hurles, Hans van Bokhoven, Kevin P. Campbell, Dirk Lefeber, Yung‐Yao Lin, Francesco Muntoni
Хэвлэсэн 2013Artigo -
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan -н Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E.L.M. Vissers, Margit Schraders, Umut Altunoğlu, Michael F. Buckley, Han G. Brunner, Bernard Grisart, Huiqing Zhou, Joris A. Veltman, Christian Gilissen, Grazia M.S. Mancini, P. Delrée, Michèl A.A.P. Willemsen, Danijela Petković Ramadža, David Chitayat, Christopher Bennett, Eamonn Sheridan, E Peeters, Gita Tan-Sindhunata, C E de Die-Smulders, Koenraad Devriendt, Hülya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L. Stemple, Dirk J. Lefeber, Yung‐Yao Lin, Hans van Bokhoven
Хэвлэсэн 2012Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Dystroglycan
Laminin
Muscular dystrophy
Cell biology
Extracellular matrix
Mutation
Phenotype
Zebrafish
Biochemistry
Congenital muscular dystrophy
Dystrophin
Glycosylation
Internal medicine
Mannose
Medicine
Missense mutation
Anatomy
Cancer research
Cell
Chemistry
Compound heterozygosity
Duchenne muscular dystrophy
Endoplasmic reticulum
Enzyme
Gene isoform
Glycan
Glycoprotein