| 1 | ATXN2, ATXN2L, DDX1, FAM98A, NUFIP2
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| FAM98A is localized to stress granules and associates with multiple stress granule-localized proteins.
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| Ozeki K, Sugiyama M, Akter KA, Nishiwaki K, Asano-Inami E, Senga T.
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| Mol Cell Biochem. Jan;451(1-2):107-115. doi: 10.1007/s11010-018-3397-6. Epub 2018 Jul 10. 2019
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| 2 | ATN1, ATXN2, HTT
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| Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease.
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| Keo A, Aziz NA, Dzyubachyk O, van der Grond J, van Roon-Mom WMC, Lelieveldt BPF, Reinders MJT, Mahfouz A.
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| Front Mol Neurosci 10:399. doi: 10.3389/fnmol.2017.00399. eCollection 2017.
2017
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| 3 | 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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| 4 | 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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| 5 | ATXN2, FBXW8, PRKN
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| Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.
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| Halbach MV, Stehning T, Damrath E, Jendrach M, Şen NE, Başak AN, Auburger G.
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| PLoS One 10(3):e0121089. doi: 10.1371/journal.pone.0121089. eCollection 2015. 2015
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| 6 | ATXN2
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| ATXN2 polyQ intermediate repeats are a modifier of ALS survival.
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| Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Restagno G, Conte A, Bisogni G, Marangi G, Moncada A, Lattante S, Zollino M, Sabatelli M, Bagarotti A, Corrado L, Mora G, Bersano E, Mazzini L, D'Alfonso S; PARALS.
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| Neurology 84(3):251-8. doi: 10.1212/WNL.0000000000001159. Epub 2014 Dec 19.
2015
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| 7 | ATXN2
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| Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.
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| Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM.
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| JAMA Neurol 71(12):1529-34. doi: 10.1001/jamaneurol.2014.2082. Erratum in: JAMA Neurol. 2015 Jan;72(1):128.
2014
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| 8 | ATXN2
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| Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
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| Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS.
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| Neurology 83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.
2014
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| 9 | ATXN2
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| Direct binding of Ataxin-2 to distinct elements in 3' UTRs promotes mRNA stability and protein expression.
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| Yokoshi M, Li Q, Yamamoto M, Okada H, Suzuki Y, Kawahara Y.
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| Mol Cell 55(2):186-98. doi: 10.1016/j.molcel.2014.05.022. Epub 2014 Jun 19.
2014
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| 10 | ATXN2, CDK5
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| Cyclin-dependent kinase 5 phosphorylates and induces the degradation of ataxin-2.
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| Asada A, Yamazaki R, Kino Y, Saito T, Kimura T, Miyake M, Hasegawa M, Nukina N, Hisanaga S.
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| Neurosci Lett 563:112-7. doi: 10.1016/j.neulet.2014.01.046. Epub 2014 Jan 31.
2014
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| 11 | ALSFTD1, ATXN2, C9orf72
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| Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
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| van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.
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| Neurobiol Aging 35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.
2014
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| 12 | ALS6, ATXN2, FUS
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| Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.
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| Farg MA, Soo KY, Warraich ST, Sundaramoorthy V, Blair IP, Atkin JD.
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| Hum Mol Genet 22(4):717-28. doi: 10.1093/hmg/dds479. Epub 2012 Nov 19.
2013
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| 13 | ATXN2
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| De novo mutations in ataxin-2 gene and ALS risk.
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| Laffita-Mesa JM, Rodríguez Pupo JM, Moreno Sera R, Vázquez Mojena Y, Kourí V, Laguna-Salvia L, Martínez-Godales M, Valdevila Figueira JA, Bauer PO, Rodríguez-Labrada R, González Zaldívar Y, Paucar M, Svenningsson P, Velázquez Pérez L.
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| PLoS One 8(8):e70560. doi: 10.1371/journal.pone.0070560. Print 2013.
2013
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| 14 | ATXN2, GRB2
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| Ataxin-2 modulates the levels of Grb2 and SRC but not ras signaling.
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| Drost J, Nonis D, Eich F, Leske O, Damrath E, Brunt ER, Lastres-Becker I, Heumann R, Nowock J, Auburger G.
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| J Mol Neurosci 51(1):68-81. doi: 10.1007/s12031-012-9949-4. Epub 2013 Jan 19.
2013
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| 15 | 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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| 16 | ATXN2, ETS1
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| ETS1 regulates the expression of ATXN2.
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| Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst SM.
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| Hum Mol Genet 21(23):5048-65. doi: 10.1093/hmg/dds349. Epub 2012 Aug 21.
2012
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| 17 | ATXN2, ATXN2L, DDX6
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| Ataxin-2-like is a regulator of stress granules and processing bodies.
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| Kaehler C, Isensee J, Nonhoff U, Terrey M, Hucho T, Lehrach H, Krobitsch S.
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| PLoS One 7(11):e50134. doi: 10.1371/journal.pone.0050134. Epub 2012 Nov 27.
2012
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| 18 | ATXN2, ETS1
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| ETS1 regulates the expression of ATXN2.
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| Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst SM.
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| Hum Mol Genet 21(23):5048-65. doi: 10.1093/hmg/dds349. Epub 2012 Aug 21.
2012
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| 19 | ATXN2, ZNF350
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| The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2.
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| Hallen L, Klein H, Stoschek C, Wehrmeyer S, Nonhoff U, Ralser M, Wilde J, Röhr C, Schweiger MR, Zatloukal K, Vingron M, Lehrach H, Konthur Z, Krobitsch S.
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| Hum Mol Genet 20(1):104-14. Epub 2010 Oct 6.
2011
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| 20 | ATXN2
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| Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
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| Lee T, Li YR, Ingre C, Weber M, Grehl T, Gredal O, de Carvalho M, Meyer T, Tysnes OB, Auburger G, Gispert S, Bonini NM, Andersen PM, Gitler AD.
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| Hum Mol Genet 20(9):1697-700. Epub 2011 Feb 3.
2011
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| 21 | 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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| 22 | ATXN2, SCA2
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| Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
|
| 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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| 23 | ATXN2
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| ATXN-2 CAG repeat expansions are interrupted in ALS patients.
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| Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, Brusco A, D'Alfonso S.
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| Hum Genet 130(4):575-80. doi: 10.1007/s00439-011-1000-2. Epub 2011 May 3.
2011
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| 24 | ALS10, ATXN2, TARDBP
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| Neurodegeneration: An expansion in ALS genetics.
|
| Lagier-Tourenne C, Cleveland DW.
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| Nature 466(7310):1052-3. No abstract available. 2010
|
| 25 | ATXN2, TARDBP
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| Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
|
| Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rüb U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD.
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| Nature 466(7310):1069-75. 2010
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| 26 | ATXN2
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| Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.
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| Figueroa KP, Farooqi S, Harrup K, Frank J, O'Rahilly S, Pulst SM.
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| PLoS One 4(12):e8280.PMID: 20016785 2009
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| 27 | ATXN2
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| Dissociated fear and spatial learning in mice with deficiency of ataxin-2.
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| Huynh DP, Maalouf M, Silva AJ, Schweizer FE, Pulst SM.
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| PLoS One 4(7):e6235.PMID: 19617910 2009
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| 28 | ATXN2, SCA2
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| Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.
|
| 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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| 29 | ATXN2, SH3KBP1
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| Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking.
|
| Nonis D, Schmidt MH, van de Loo S, Eich F, Dikic I, Nowock J, Auburger G.
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| Cell Signal 20(10):1725-39. Epub 2008 Jun 15.PMID: 18602463 2008
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| 30 | ATXN2, DDX6
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| Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules.
|
| Nonhoff U, Ralser M, Welzel F, Piccini I, Balzereit D, Yaspo ML, Lehrach H, Krobitsch S.
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| Mol Biol Cell 18(4):1385-96. Epub 2007 Feb 7. 2007
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| 31 | ATXN2, DDX6
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| Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules.
|
| Nonhoff U, Ralser M, Welzel F, Piccini I, Balzereit D, Yaspo ML, Lehrach H, Krobitsch S.
|
| Mol Biol Cell 18(4):1385-96. Epub 2007 Feb 7.
2007
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| 32 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
|
| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
|
| 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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| 33 | SCA2, ATXN2
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| Spinocerebellar ataxia type 2 olfactory impairment shows a pattern similar to other major neurodegenerative diseases.
|
| 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
|
| 34 | PLS3, LCP1, ATXN2, HTT, SH3GL3, SH3GL2
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| Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
|
| Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, Lehrach H, Krobitsch S.
|
| Hum Mol Genet 14(19):2893-2909. Epub 2005 Aug 22. 2005
|
| 35 | 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
|
| Diseases of unstable repeat expansion: mechanisms and common principles.
|
| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 36 | ATXN2,CACNA1A,SCA2
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| Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.
|
| Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP.
|
| Brain 128(Pt 10):2297-303. Epub 2005 Jul 6. 2005
|
| 37 | ATXN2
|
| Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.
|
| Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F.
|
| Am J Med Genet 124A(4):392-6. 2004
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| 38 | ATXN2, ATXN3
|
| Structural and functional analysis of ataxin-2 and ataxin-3.
|
| Albrecht M, Golatta M, Wullner U, Lengauer T.
|
| Eur J Biochem 271(15):3155-70. 2004
|
| 39 | ATXN2
|
| Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death.
|
| Huynh DP, Yang HT, Vakharia H, Nguyen D, Pulst SM.
|
| Hum Mol Genet 12(13):1485-96. 2003
|
| 40 | ATXN2
|
| Ataxin-2 promotes apoptosis of human neuroblastoma cells.
|
| Wiedemeyer R, Westermann F, Wittke I, Nowock J, Schwab M.
|
| Oncogene 22(3):401-11. 2003
|
| 41 | ATXN2, ATXN7
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| Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7.
|
| Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K.
|
| Am J Med Genet 110(4):338-45. 2002
|
| 42 | ATXN2
|
| A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation.
|
| Satterfield TF, Jackson SM, Pallanck LJ.
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| Genetics 162(4):1687-702. 2002
|
| 43 | ATXN2
|
| CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.
|
| Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK.
|
| Hum Mol Genet 10(21):2437-46. 2001
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| 44 | ATXN2
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| Identification of alternative splicing of spinocerebellar ataxia type 2 gene.
|
| Affaitati A, de Cristofaro T, Feliciello A, Varrone S.
|
| Gene 267(1):89-93. 2001
|
| 45 | ATXN2
|
| Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.
|
| Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK.
|
| Hum Genet 106(2):179-87. 2000
|
| 46 | ATXN2
|
| Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.
|
| Huynh DP, Figueroa K, Hoang N, Pulst SM.
|
| Nat Genet 26(1):44-50. 2000
|
| 47 | ATXN2
|
| Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis : (CCG) 1-2 polymorpism and contribution to founder effect.
|
| Mizushima K, Watanabe M, Kondo I, Okamoto K, Shizuka M, Abe K, Aoki M, Shoji M.
|
| J Med Genet 36 : 112-114. 1999
|
| 48 | ATXN2
|
| Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction.
|
| Storey E, et al.
|
| Arch Neurol 56(1):43-50. 1999
|
| 49 | ATXN2
|
| Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.
|
| Huynh DP, et al.
|
| Ann Neurol 45(2):232-41. 1999
|
| 50 | ATXN2
|
| Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands.
|
| Aguiar J, et al.
|
| Biochem Biophys Res Commun 254(2):315-8. 1999
|
| 51 | ATXN2
|
| Linkage disequilibrium at the SCA2 locus.
|
| Didierjean O, et al.
|
| J Med Genet 36(5):415-7. 1999
|
| 52 | ERDA1, ATXN3, ATXN1, ATXN2, ATXN7, TCF4
|
| Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands.
|
| Brock GJ, et al.
|
| Hum Mol Genet 8(6):1061-7. 1999
|
| 53 | ATXN2
|
| A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.
|
| Pang J, et al.
|
| Eur J Hum Genet 7(7):841-5 1999
|
| 54 | ATXN2
|
| Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2.
|
| Matsuura T, Sasaki H, Yabe I, Hamada K, Hamada T, Shitara M, Tashiro K.
|
| J Neurol 246(9):835-9 1999
|
| 55 | ATXN2
|
| Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1.
|
| Sahba S, Nechiporuk A, Figueroa KP, Nechiporuk T, Pulst SM.
|
| Genomics 47(3):359-64. 1998
|
| 56 | ATXN2
|
| The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
|
| Giunti P, et al.
|
| Brain 121 : 459-467. 1998
|
| 57 | ATXN2, SCA6
|
| CAG repeat expansions in patients with sporadic cerebellar ataxia.
|
| Futamura N, et al.
|
| Acta Neurol Scand 98 : 55-59. 1998
|
| 58 | ATXN2
|
| Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
|
| Cancel G, Durr A, Didierjean O, Imbert G, Burk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimaraes J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A.
|
| Hum Mol Genet 6(5):709-15. 1997
|
| 59 | ATXN2
|
| The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
|
| Geschwind DH, et al.
|
| Am J Hum Genet 60 : 842-850. 1997
|
| 60 | ATXN2
|
| Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II) : clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.
|
| Jšbsis GJ, et al.
|
| J Neurol Neurosurg Psychiatry 62 : 367-371. 1997
|
| 61 | ATXN2
|
| SCA2 trinucleotide expansion in German SCA patients.
|
| Riess O, et al.
|
| Neurogenetics 1 : 59-64. 1997
|
| 62 | ATXN2
|
| A high-resolution PAC and BAC map of the SCA2 region.
|
| Nechiporuk T, Nechiporuk A, Sahba S, Figueroa K, Shibata H, Chen XN, Korenberg JR, de Jong P, Pulst SM.
|
| Genomics 44(3):321-9. 1997
|
| 63 | ALDH2, ATP2A2, OAS1, PPP1CC, PTPN11, ATXN2
|
| A sequence-ready physical map of a region of 12q24.1.
|
| Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R.
|
| Genomics 45(2):271-8. 1997
|
| 64 | ATXN2, BHLHE22, CASK, CELF3, CNPY3, EP400, FOXP2, JPH3, KMT2D, MAGI1, MAML3, MED12, MED15, NUMBL, PAXIP1, TNRC15, TNRC17, TNRC18, TNRC6A, TOX3, ZNF384
|
| cDNAs with long CAG trinucleotide repeats from human brain.
|
| Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA.
|
| Hum Genet 100(1):114-22. 1997
|
| 65 | D12S1126, D12S1127, D12S1128, ATXN2
|
| Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map.
|
| Nechiporuk T, et al.
|
| Hum Genet 97 : 462-467. 1996
|
| 66 | ATXN2
|
| Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies) : genetic analysis of three unrelated SCA2 families.
|
| Lezin A, et al.
|
| Hum Genet 97 : 671-676. 1996
|
| 67 | ATXN2
|
| Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12.
|
| Nechiporuk A, et al.
|
| Neurology 46 : 1731-1735. 1996
|
| 68 | ATXN2
|
| Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
|
| Pulst SM, et al.
|
| Nat Genet 14 : 269-276. 1996
|
| 69 | ATXN2
|
| Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
|
| Sanpei K, et al.
|
| Nat Genet 14 : 277-284. 1996
|
| 70 | ATXN2, ATXN7
|
| Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
|
| Stevanin G, et al.
|
| Hum Mol Genet 5 : 1887-1892. 1996
|
| 71 | ATXN2, SCA2
|
| 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
|
| 72 | DAO, ATXN2
|
| Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2.
|
| Gispert S, Lunkes A, Santos N, Orozco G, Ha-Hao D, Ratzlaff T, Aguiar J, Torrens I, Heredero L, Brice A, et al.
|
| Am J Hum Genet 57 : 972-975. 1995
|
| 73 | ATXN2
|
| SCA2 is not a major locus for ADCA type I in French families.
|
| Cancel G, Stevanin G, Durr A, Chneiweiss H, Penet C, Pothin Y, Agid Y, Brice A.
|
| Am J Med Genet 60(5):382-5. 1995
|
| 74 | ATXN2
|
| Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.
|
| Hernandez A, et al.
|
| Genomics 25 : 433-435. 1995
|
| 75 | ATXN2
|
| The spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23-24.1.
|
| Allotey R, et al.
|
| Am J Hum Genet 57 : 185-189. 1995
|
| 76 | NOS1, ATXN2, ASCL1
|
| Exclusion of the neuronal nitric oxide synthase gene and the human achaete-scute homologue I gene as candidate loci for spinal cerebellar ataxia 2.
|
| Twells R, et al.
|
| Am J Hum Genet 56 : 336-337. 1995
|
| 77 | ATXN2
|
| Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.
|
| Lopes-Cendes I, et al.
|
| Am J Hum Genet 54 : 774-781. 1994
|
| 78 | ATXN2
|
| Genetic map of the spinocerebellar ataxia type 2 (SCA2) region on chromosome 12. (abstr)
|
| Nechiporuk A, et al.
|
| Am J Hum Genet 55 : A200. 1994
|
| 79 | ATXN2
|
| Spinocerebellar ataxia 2 : fine genetic mapping of the disease locus and exclusion of two candidate genes. (abstr)
|
| Twells R, et al.
|
| Cytogenet Cell Genet 67 : 275. 1994
|
| 80 | ATXN2
|
| Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese : linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2).
|
| Ihara T, et al.
|
| Jpn J Hum Genet 39 : 305-313. 1994
|
| 81 | ATXN2
|
| Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
|
| Gispert S, et al.
|
| Nat Genet 4 : 295-299. 1993
|
| 82 | ATXN1, ATXN2, ATXN3
|
| Genetic heterogeneity of autosomal dominant cerebellar ataxia type I : evidence for the existence of a third locus.
|
| Stevanin G, et al.
|
| Hum Mol Genet 2 : 1483-1485. 1993
|
| 83 | ATXN2
|
| Anticipation in spinocerebellar ataxia type 2.
|
| Pulst SM, et al.
|
| Nat Genet 5 : 8-10. 1993
|
| 84 | ATXN2
|
| Machado-Joseph disease is genetically different from holguin dominant ataxia (SCA2).
|
| Silveira I, et al.
|
| Genomics 17 : 556-559. 1993
|