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Items: 1 to 20 of 111

1.

Ataxin-2 repeat-length variation and neurodegeneration.

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.

Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24.

2.

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.

3.

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.

4.

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
5.

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.

6.

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
7.

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
8.

De novo mutations in ataxin-2 gene and ALS risk.

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.

PLoS One. 2013 Aug 6;8(8):e70560. doi: 10.1371/journal.pone.0070560. Print 2013.

9.

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
10.

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.

11.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

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.

Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.

12.

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
13.

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
14.

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia.

Nielsen TT, Svenstrup K, Budtz-Jørgensen E, Eiberg H, Hasholt L, Nielsen JE.

J Neurol Sci. 2012 Oct 15;321(1-2):100-2. doi: 10.1016/j.jns.2012.07.036. Epub 2012 Aug 3.

PMID:
22868089
15.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

16.

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.

17.

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.

18.

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.

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.

Neurobiol Aging. 2014 Oct;35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.

19.

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
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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