| 1 | SCA11, TTBK2
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| Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.
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| Bowie E, Norris R, Anderson KV, Goetz SC.
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| PLoS Genet 14(12):e1007844. doi: 10.1371/journal.pgen.1007844. eCollection 2018 Dec.
2018
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| 2 | CCP110, SCA11, TTBK2
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| The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.
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| Goetz SC, Liem KF Jr, Anderson KV.
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| Cell 151(4):847-858. doi: 10.1016/j.cell.2012.10.010.
2012
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| 3 | SCA11, TTBK2
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| TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.
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| Bouskila M, Esoof N, Gay L, Fang EH, Deak M, Begley MJ, Cantley LC, Prescott A, Storey KG, Alessi DR.
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| Biochem J 437(1):157-67.
2011
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| 4 | SCA11
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| Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
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| Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A.
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| J Neurol Neurosurg Psychiatry 81(11):1229-32. Epub 2010 Jul 28.
2010
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| 5 | SCA11, TTBK2
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| Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
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| Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A.
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| J Neurol Neurosurg Psychiatry 81(11):1229-32. doi: 10.1136/jnnp.2009.202150. Epub 2010 Jul 28.
2010
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| 6 | SCA11, TTBK2
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| Spinocerebellar ataxia type 11 in the Chinese Han population.
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| Xu Q, Li X, Wang J, Yi J, Lei L, Shen L, Jiang H, Xia K, Pan Q, Tang B.
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| Neurol Sci 31(1):107-9. doi: 10.1007/s10072-009-0129-4. Epub 2009 Sep 19.
2010
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| 7 | SCA11, TTBK2
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| Missense exchanges in the TTBK2 gene mutated in SCA11.
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| Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C.
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| J Neurol 256(11):1856-9. Epub 2009 Jun 17.
2009
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| 8 | TTBK2, SCA11
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| Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
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| Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW.
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| Nat Genet 39(12):1434-6. Epub 2007 Nov 25. 2007
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| 9 | SCA11
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| Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.
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| Worth PF, et al.
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| Am J Hum Genet 65(2):420-6 1999
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