TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
Larson, Austin A, Baker, 2nd, Peter R, Milev, Miroslav P, Press, Craig A, Sokol, Ronald J, Cox, Mary O, Lekostaj, Jacqueline K, Stence, Aaron A, Bossler, Aaron D, Mueller, Jennifer M, Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A, Sacher, Michael, Moore, Steven A
Published in Skeletal muscle (31.05.2018)
Published in Skeletal muscle (31.05.2018)
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Journal Article
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Koehler, Katrin, Milev, Miroslav P., Prematilake, Keshika, Reschke, Felix, Kutzner, Susann, Jühlen, Ramona, Landgraf, Dana, Utine, Eda, Hazan, Filiz, Diniz, Gulden, Schuelke, Markus, Huebner, Angela, Sacher, Michael
Published in Journal of medical genetics (01.03.2017)
Published in Journal of medical genetics (01.03.2017)
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Journal Article
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
Milev, Miroslav P., Grout, Megan E., Saint-Dic, Djenann, Cheng, Yong-Han Hank, Glass, Ian A., Hale, Christopher J., Hanna, David S., Dorschner, Michael O., Prematilake, Keshika, Shaag, Avraham, Elpeleg, Orly, Sacher, Michael, Doherty, Dan, Edvardson, Simon
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Journal Article