Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Muscular Dystrophies and FKRP[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 |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC neurology 2014 14 154. Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len |
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. Orphanet journal of rare diseases 2019 Nov 14 (1): 250. Xie Zhiying, Xie Zhihao, Yu Meng, Zheng Yiming, Sun Chengyue, Liu Yilin, Ling Chen, Zhu Ying, Zhang Wei, Xiao Jiangxi, Wang Zhaoxia, Yuan Y |
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 |
Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical genetics 2023 8 . Jana Zídková, Tereza Kramá?ová, Johana Kop?ilová, Kamila Réblová, Jana Haberlová, Radim Mazanec, Stanislav Vohá?ka, Andrea G?ego?ová, Martina Langová, Tomáš Honzík, Jana Šoukalová, Hana Ošlejšková, Pavla Sola?ová, Emílie Vyhnálková, Lenka Fajkuso |
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 |
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 2024 1 . Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzi |
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- Page last updated:Apr 29, 2024
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