| 1 | ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, SCA1, SCA2, SCA3, SCA7, SCA8
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| Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent
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| Paradisi I, Ikonomu V, Arias S.
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| J Hum Genet. Mar;61(3):215-22. doi: 10.1038/jhg.2015.131. Epub 2015 Nov 5. 2016
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| 2 | ATXN2, SCA2
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| Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat.
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| Scoles DR, Ho MH, Dansithong W, Pflieger LT, Petersen LW, Thai KK, Pulst SM.
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| PLoS One 10(6):e0128769. doi: 10.1371/journal.pone.0128769. eCollection 2015.
2015
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| 3 | ATXN2, SCA2
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| Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.
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| Laffita-Mesa JM, Velázquez-Pérez LC, Santos Falcón N, Cruz-Mariño T, González Zaldívar Y, Vázquez Mojena Y, Almaguer-Gotay D, Almaguer Mederos LE, Rodríguez Labrada R.
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| Eur J Hum Genet 20(1):41-9. doi: 10.1038/ejhg.2011.154. Epub 2011 Sep 21.
2012
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| 4 | ATXN2, SCA2
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| Ataxin-2 repeat-length variation and neurodegeneration.
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| Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R.
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| Hum Mol Genet 20(16):3207-12. Epub 2011 May 24.
2011
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| 5 | ATXN2, SCA2
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| Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
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| Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM.
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| Neurology 77(11):1055-60. Epub 2011 Aug 31.
2011
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| 6 | SCA17, SCA2, SCA3
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| Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
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| Yun JY, Lee WW, Kim HJ, Kim JS, Kim JM, Kim HJ, Kim SY, Kim JY, Park SS, Kim YK, Kim SE, Jeon BS.
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| Parkinsonism Relat Disord 17(5):338-42. doi: 10.1016/j.parkreldis.2011.01.015. Epub 2011 Feb 19.
2011
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| 7 | ATXN2, SCA2
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| Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.
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| Abdel-Aleem A, Zaki MS.
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| J Neurol 255(3):413-9. Epub 2008 Feb 26.PMID: 18297329 2008
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| 8 | SCA2
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| Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood.
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| Ramocki MB, Chapieski L, McDonald RO, Fernandez F, Malphrus AD.
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| J Child Neurol 23(9):999-1001. Epub 2008 Mar 14.
2008
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| 9 | SCA2
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| Gene dosage influences the age at onset of SCA2 in a family from southern Italy.
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| Spadafora P, Annesi G, Liguori M, Tarantino P, Cutuli N, Carrideo S, Ciro Candiano IC, De Marco EV, Civitelli D, Annesi F, Giuffrida S, Quattrone A.
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| Clin Genet 72(4):381-3. No abstract available. 2007
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| 10 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
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| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
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| Helmlinger D, Tora L, Devys D.
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| Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
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| 11 | SCA2, ATXN2
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| Spinocerebellar ataxia type 2 olfactory impairment shows a pattern similar to other major neurodegenerative diseases.
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| Vel‡zquez-PŽrez L, Fernandez-Ruiz J, D’az R, Gonz‡lez RP, Ochoa NC, Cruz GS, Mederos LE, G—ngora EM, Hudson R, Drucker-Colin R.
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| J Neurol 253(9):1165-9. Epub 2006 Apr 11. 2006
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| 12 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 13 | ATXN2,CACNA1A,SCA2
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| Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.
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| Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP.
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| Brain 128(Pt 10):2297-303. Epub 2005 Jul 6. 2005
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| 14 | ATN1, ATXN1, SCA2, SCA6
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| Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
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| Takano H, et al.
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| Am J Hum Genet 63 : 1060-1066. 1998
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| 15 | ATXN2, SCA2
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| Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
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| Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A.
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| Nat Genet 14(3):285-91. 1996
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