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Items: 1 to 20 of 219

1.

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.

Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo SH.

JAMA Neurol. 2013 Oct;70(10):1302-4.

2.

ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis.

Liu X, Lu M, Tang L, Zhang N, Chui D, Fan D.

Neurobiol Aging. 2013 Sep;34(9):2236.e5-8. doi: 10.1016/j.neurobiolaging.2013.04.009. Epub 2013 Apr 28.

PMID:
23635656
3.

A case of amyotrophic lateral sclerosis with intermediate ATXN-1 CAG repeat expansion in a large family with spinocerebellar ataxia type 1.

Spataro R, La Bella V.

J Neurol. 2014 Jul;261(7):1442-3. doi: 10.1007/s00415-014-7400-1. Epub 2014 Jun 11. No abstract available.

PMID:
24916831
4.

FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion.

Bäumer D, East SZ, Tseu B, Zeman A, Hilton D, Talbot K, Ansorge O.

Acta Neuropathol. 2014 Oct;128(4):597-604. doi: 10.1007/s00401-014-1277-z. Epub 2014 Apr 10.

PMID:
24718895
5.

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.

Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, Elman L, Kalb RG, Trojanowski JQ, Lee VM, Van Deerlin VM, Gitler AD, Bonini NM.

PLoS One. 2011 Mar 29;6(3):e17951. doi: 10.1371/journal.pone.0017951.

6.

Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.

Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM.

JAMA Neurol. 2014 Dec;71(12):1529-34. doi: 10.1001/jamaneurol.2014.2082. Erratum in: JAMA Neurol. 2015 Jan;72(1):128.

7.

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

Van Damme P, Veldink JH, van Blitterswijk M, Corveleyn A, van Vught PW, Thijs V, Dubois B, Matthijs G, van den Berg LH, Robberecht W.

Neurology. 2011 Jun 14;76(24):2066-72. doi: 10.1212/WNL.0b013e31821f445b. Epub 2011 May 11.

PMID:
21562247
8.

ATXN-2 CAG repeat expansions are interrupted in ALS patients.

Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, Brusco A, D'Alfonso S.

Hum Genet. 2011 Oct;130(4):575-80. doi: 10.1007/s00439-011-1000-2. Epub 2011 May 3.

PMID:
21537950
9.

ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.

Li PP, Sun X, Xia G, Arbez N, Paul S, Zhu S, Peng HB, Ross CA, Koeppen AH, Margolis RL, Pulst SM, Ashizawa T, Rudnicki DD.

Ann Neurol. 2016 Oct;80(4):600-15. doi: 10.1002/ana.24761.

PMID:
27531668
10.

Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.

Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupré N, Dion PA, Rouleau GA.

Arch Neurol. 2011 Jun;68(6):739-42. doi: 10.1001/archneurol.2011.111.

PMID:
21670397
11.

Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.

Laffita-Mesa JM, Bauer PO, Kourí V, Peña Serrano L, Roskams J, Almaguer Gotay D, Montes Brown JC, Martínez Rodríguez PA, González-Zaldívar Y, Almaguer Mederos L, Cuello-Almarales D, Aguiar Santiago J.

Hum Genet. 2012 Apr;131(4):625-38. doi: 10.1007/s00439-011-1101-y. Epub 2011 Oct 30.

PMID:
22037902
12.

Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.

Bonini NM, Gitler AD.

J Mol Neurosci. 2011 Nov;45(3):676-83. doi: 10.1007/s12031-011-9548-9. Epub 2011 Jun 10. Review.

13.

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

Ramos EM, Martins S, Alonso I, Emmel VE, Saraiva-Pereira ML, Jardim LB, Coutinho P, Sequeiros J, Silveira I.

Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):524-531. doi: 10.1002/ajmg.b.31013.

PMID:
19676102
14.

RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease.

Nkiliza A, Mutez E, Simonin C, Leprêtre F, Duflot A, Figeac M, Villenet C, Semaille P, Comptdaer T, Genet A, Sablonnière B, Devos D, Defebvre L, Destée A, Chartier-Harlin MC.

Neurobiol Dis. 2016 Dec;96:312-322. doi: 10.1016/j.nbd.2016.09.014. Epub 2016 Sep 20.

PMID:
27663142
15.

Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.

Tan RH, Kril JJ, McGinley C, Hassani M, Masuda-Suzukake M, Hasegawa M, Mito R, Kiernan MC, Halliday GM.

Ann Neurol. 2016 Feb;79(2):295-305. doi: 10.1002/ana.24565. Epub 2016 Jan 14.

PMID:
26599997
16.

Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis.

Figley MD, Thomas A, Gitler AD.

Neurobiol Aging. 2014 Apr;35(4):936.e1-4. doi: 10.1016/j.neurobiolaging.2013.09.024. Epub 2013 Oct 23.

17.

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.

Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320.

18.

Linkage analysis and whole-exome sequencing exclude extra mutations responsible for the parkinsonian phenotype of spinocerebellar ataxia-2.

Wang C, Xu Y, Feng X, Ma J, Xie S, Zhang Y, Tang BS, Chan P.

Neurobiol Aging. 2015 Jan;36(1):545.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.039. Epub 2014 Aug 2.

PMID:
25189117
19.

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

Highley JR, Lorente Pons A, Cooper-Knock J, Wharton SB, Ince PG, Shaw PJ, Wood J, Kirby J.

Neuropathol Appl Neurobiol. 2016 Jun;42(4):377-89. doi: 10.1111/nan.12254. Epub 2015 Jul 7.

PMID:
26095883
20.

The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.

Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, Geisen C, Gitler AD, Becker T, Weber M, Berg D, Andersen PM, Krüger R, Riess O, Ludolph AC, Auburger G.

Neurobiol Dis. 2012 Jan;45(1):356-61. doi: 10.1016/j.nbd.2011.08.021. Epub 2011 Aug 25.

PMID:
21889984

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