Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Muscular Dystrophies and POMGNT1[original query] |
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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain : a journal of neurology 2007 Oct 130 (Pt 10): 2725-35. Godfrey Caroline, Clement Emma, Mein Rachael, Brockington Martin, Smith Janine, Talim Beril, Straub Volker, Robb Stephanie, Quinlivan Ros, Feng Lucy, Jimenez-Mallebrera Cecilia, Mercuri Eugenio, Manzur Adnan Y, Kinali Maria, Torelli Silvia, Brown Susan C, Sewry Caroline A, Bushby Kate, Topaloglu Haluk, North Kathryn, Abbs Stephen, Muntoni Frances |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009 May 72 (21): 1802-9. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi G P, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan C P, Uggetti C, Vasco G, Santorelli F M, Bertini |
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clinical genetics 2020 11 99 (3): 384-395. Song Danyu, Dai Yi, Chen Xiaoyu, Fu Xiaona, Chang Xingzhi, Wang Ning, Zhang Cheng, Yan Chuanzhu, Zheng Hong, Wu Liwen, Jiang Li, Hua Ying, Yang Haipo, Wang Zhiqiang, Dai Tingjun, Zhu Wenhua, Han Chunxi, Yuan Yun, Kobayashi Kazuhiro, Toda Tatsushi, Xiong H |
Broad spectrum of phenotype and genotype in Korean ?-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center. Neuromuscular disorders : NMD 2023 4 33 (5): 425-431. Young Jun Ko, Anna Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Jong-Hee Ch |
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