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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Muscular Dystrophies and DYSF[original query]
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
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
Neurology India 0 62 (6): 635-9.
Xi Jianying, Blandin Gaelle, Lu Jiahong, Luo Sushan, Zhu Wenhua, Béroud Christophe, Pécheux Christophe, Labelle Véronique, Lévy Nicolas, Urtizberea Jon Andoni, Zhao Chongbo, Krahn Mart
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
Orphanet journal of rare diseases 2020 1 15 (1): 14.
Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
Human mutation 2021 9 42 (12): 1615-1623.
Zhong Huahua, Yu Meng, Lin Pengfei, Zhao Zhe, Zheng Xueying, Xi Jianying, Zhu Wenhua, Zheng Yiming, Zhang Wei, Lv He, Yan Chuanzhu, Hu Jing, Wang Zhaoxia, Lu Jiahong, Zhao Chongbo, Luo Sushan, Yuan Y
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