| 1 | CLA4, ITPR1, SCA15
|
| Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
|
| Tada M, Nishizawa M, Onodera O.
|
| Neurochem Int 94:1-8. doi: 10.1016/j.neuint.2016.01.007. Epub 2016 Jan 28. Review.
2016
|
| 2 | SCA15
|
| Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
|
| Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hübsch T, Wüllner U, Nägele T, Riess O, Schöls L, Bauer P.
|
| J Med Genet 48(6):407-12. Epub 2011 Mar 1.
2011
|
| 3 | ITPR1, SCA15
|
| Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.
|
| Yamazaki H, Nozaki H, Onodera O, Michikawa T, Nishizawa M, Mikoshiba K.
|
| Biochem Biophys Res Commun 410(4):754-8. Epub 2011 Jun 13.
2011
|
| 4 | ITPR1, SCA15
|
| Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
|
| Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O.
|
| Neurology 71(8):547-51. Epub 2008 Jun 25.
2008
|
| 5 | ITPR1, SCA15
|
| Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
|
| van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB.
|
| PLoS Genet 3(6):e108. Epub 2007 May 16.
2007
|
| 6 | ITPR1, SCA15
|
| Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.
|
| Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P, Gardner RJ, Storey E, Forrest SM.
|
| Neurobiol Dis 13(2):147-57. 2003
|
| 7 | SCA15
|
| A new autosomal dominant pure cerebellar ataxia.
|
| Storey E, Gardner RJ, Knight MA, Kennerson ML, Tuck RR, Forrest SM, Nicholson GA.
|
| Neurology 57(10):1913-5. 2001
|