Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 120

1.

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts.

Van Langenhove T, van der Zee J, Engelborghs S, Vandenberghe R, Santens P, Van den Broeck M, Mattheijssens M, Peeters K, Nuytten D, Cras P, De Deyn PP, De Jonghe P, Cruts M, Van Broeckhoven C.

Neurobiol Aging. 2012 May;33(5):1004.e17-20. doi: 10.1016/j.neurobiolaging.2011.09.025. Epub 2011 Oct 27.

PMID:
22035589
2.

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Bäumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C.

Lancet Neurol. 2012 Jan;11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7. Epub 2011 Dec 7. Erratum in: Lancet Neurol. 2012 Feb;11(2):125.

PMID:
22154785
3.

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
4.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V.

Neurology. 2012 Dec 11;79(24):2315-20. doi: 10.1212/WNL.0b013e318278b618. Epub 2012 Nov 28.

PMID:
23197749
5.

ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications.

Hart MP, Gitler AD.

J Neurosci. 2012 Jul 4;32(27):9133-42. doi: 10.1523/JNEUROSCI.0996-12.2012.

6.

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G, Bäumer V, Van Den Broeck M, Mattheijssens M, Peeters K, Martin JJ, Michotte A, Santens P, De Jonghe P, Cras P, De Deyn PP, Cruts M, Van Broeckhoven C.

JAMA Neurol. 2013 Mar 1;70(3):365-73. doi: 10.1001/2013.jamaneurol.181.

PMID:
23338682
7.

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.

8.

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, Kumar-Singh S, Van Broeckhoven C, Cruts M.

Arch Neurol. 2010 May;67(5):606-16. doi: 10.1001/archneurol.2010.82.

PMID:
20457961
9.

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.

10.

Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis.

Chen Y, Huang R, Yang Y, Chen K, Song W, Pan P, Li J, Shang HF.

Neurobiol Aging. 2011 Oct;32(10):1925.e1-5. doi: 10.1016/j.neurobiolaging.2011.05.015. Epub 2011 Jul 7.

PMID:
21741123
11.

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients.

Dillen L, Van Langenhove T, Engelborghs S, Vandenbulcke M, Sarafov S, Tournev I, Merlin C, Cras P, Vandenberghe R, De Deyn PP, Jordanova A, Cruts M, Van Broeckhoven C, van der Zee J; BELNEU consortium.

Neurobiol Aging. 2013 Jun;34(6):1711.e1-5. doi: 10.1016/j.neurobiolaging.2012.12.007. Epub 2013 Jan 9.

PMID:
23312802
12.

Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis.

Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM, Gitler AD.

Neurology. 2011 Jun 14;76(24):2062-5. doi: 10.1212/WNL.0b013e31821f4447. Epub 2011 May 11.

13.

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.

Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E.

Neurobiol Aging. 2013 Jun;34(6):1709.e1-2. doi: 10.1016/j.neurobiolaging.2012.10.026. Epub 2012 Nov 24.

PMID:
23182804
14.

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
15.

ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.

Lahut S, Ömür Ö, Uyan Ö, Ağım ZS, Özoğuz A, Parman Y, Deymeer F, Oflazer P, Koç F, Özçelik H, Auburger G, Başak AN.

PLoS One. 2012;7(8):e42956. doi: 10.1371/journal.pone.0042956. Epub 2012 Aug 20.

16.

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.

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.

Hum Mol Genet. 2011 May 1;20(9):1697-700. doi: 10.1093/hmg/ddr045. Epub 2011 Feb 3.

17.

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Cooper-Knock J, Shaw PJ, Kirby J.

Acta Neuropathol. 2014 Mar;127(3):333-45. doi: 10.1007/s00401-014-1251-9. Epub 2014 Feb 4. Review.

18.

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
19.

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
20.

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.

Hart MP, Brettschneider J, Lee VM, Trojanowski JQ, Gitler AD.

Acta Neuropathol. 2012 Aug;124(2):221-30. doi: 10.1007/s00401-012-0985-5. Epub 2012 Apr 21.

Supplemental Content

Support Center