HuGE Literature Finder
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Records 1-5
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Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Brain : a journal of neurology 2015 Jul 138 (Pt 7): 1817-32. Parolin Schnekenberg Ricardo, Perkins Emma M, Miller Jack W, Davies Wayne I L, D'Adamo Maria Cristina, Pessia Mauro, Fawcett Katherine A, Sims David, Gillard Elodie, Hudspith Karl, Skehel Paul, Williams Jonathan, O'Regan Mary, Jayawant Sandeep, Jefferson Rosalind, Hughes Sarah, Lustenberger Andrea, Ragoussis Jiannis, Jackson Mandy, Tucker Stephen J, Németh Andrea |
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Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.
The International journal of neuroscience 2013 Jan . Peng L, Wang C, Chen Z, Wang JL, Tang BS, Jiang H |
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Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
PloS one 2011 6 (3): e17811. Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan |
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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Archives of neurology 2004 May 61 (5): 727-33. Brusco Alfredo, Gellera Cinzia, Cagnoli Claudia, Saluto Alessandro, Castucci Alessia, Michielotto Chiara, Fetoni Vincenza, Mariotti Caterina, Migone Nicola, Di Donato Stefano, Taroni Fran |
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- Page last updated:Dec 12, 2019
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