| 1 | CLA4, ITPR1
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| Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
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| Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G.
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| Clin Genet lin Genet. 2016 Apr 7. doi: 10.1111/cge.12783. [Epub ahead of print]
2016
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| 2 | CLA4, ITPR1, SCA15
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| Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
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| Tada M, Nishizawa M, Onodera O.
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| Neurochem Int 94:1-8. doi: 10.1016/j.neuint.2016.01.007. Epub 2016 Jan 28. Review.
2016
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| 3 | CLA4, ITPR1
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| Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
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| Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.
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| J Neurol 262(5):1278-84. doi: 10.1007/s00415-015-7705-8. Epub 2015 Mar 21.
2015
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| 4 | CLA4, ITPR1
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| Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
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| Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.
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| J Neurol 262(5):1278-84. doi: 10.1007/s00415-015-7705-8. Epub 2015 Mar 21.
2015
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| 5 | CLA4
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| Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus.
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| Dudding TE, Friend K, Schofield PW, Lee S, Wilkinson IA, Richards RI.
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| Neurology 63(12):2288-92. 2004
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