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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Spinocerebellar Ataxias and FGF14[original query]
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
European journal of human genetics : EJHG 2005 Jan 13 (1): 118-20.
Dalski Andreas, Atici Jassemien, Kreuz Friedmar R, Hellenbroich Yorck, Schwinger Eberhard, Zühlke Christi
Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.
Neuroscience letters 2012 Jun 520 (1): 16-9.
Chen Zhao, Li Xiaohui, Tang Beisha, Wang Junling, Shi Yuting, Sun Zhanfang, Zhang Li, Pan Qian, Xia Kun, Jiang Ho
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594.
Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra,
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