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Items: 1 to 20 of 107

1.

Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations.

Czell D, Andersen PM, Morita M, Neuwirth C, Perren F, Weber M.

Neurodegener Dis. 2013;12(3):150-5. doi: 10.1159/000345835. Epub 2013 Jan 10.

PMID:
23327806
2.

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese.

Iida A, Kamei T, Sano M, Oshima S, Tokuda T, Nakamura Y, Ikegawa S.

Neurobiol Aging. 2012 Apr;33(4):786-90. doi: 10.1016/j.neurobiolaging.2010.06.017. Epub 2010 Aug 2.

PMID:
20675015
3.

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP.

Eur J Neurol. 2009 Jun;16(6):727-32. doi: 10.1111/j.1468-1331.2009.02574.x. Epub 2009 Feb 19.

PMID:
19236453
4.

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S.

Hum Mutat. 2009 Apr;30(4):688-94. doi: 10.1002/humu.20950.

PMID:
19224587
5.

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau GA.

J Med Genet. 2009 Feb;46(2):112-4. doi: 10.1136/jmg.2008.062463. Epub 2008 Oct 17.

PMID:
18931000
6.

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.

Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE, Ince PG, McDermott CJ, Shaw PJ.

Neurogenetics. 2010 May;11(2):217-25. doi: 10.1007/s10048-009-0218-9. Epub 2009 Sep 17.

PMID:
19760257
7.

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

Chiò A, Calvo A, Moglia C, Restagno G, Ossola I, Brunetti M, Montuschi A, Cistaro A, Ticca A, Traynor BJ, Schymick JC, Mutani R, Marrosu MG, Murru MR, Borghero G.

Arch Neurol. 2010 Aug;67(8):1002-9. doi: 10.1001/archneurol.2010.173.

8.

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R.

PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193.

9.

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.

Kühnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, Trojanowski JQ, Kretzschmar HA, Ludolph AC, Neumann M.

Arch Neurol. 2008 Sep;65(9):1185-9. doi: 10.1001/archneur.65.9.1185.

10.

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.

Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, Lumbroso S, Rouleau GA, Meininger V, Camu W.

Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25.

PMID:
22539580
11.

Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.

Zou ZY, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.

Neurobiol Aging. 2012 Sep;33(9):2229.e11-2229.e18. doi: 10.1016/j.neurobiolaging.2012.03.014. Epub 2012 May 9.

PMID:
22575358
12.

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB.

Clin Genet. 2012 Feb;81(2):172-8. doi: 10.1111/j.1399-0004.2011.01668.x. Epub 2011 Apr 18.

PMID:
21418058
13.

Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.

Ye CH, Lu XL, Zheng MY, Zhen J, Li ZP, Shi L, Liu ZY, Feng LY, Pei Z, Yao XL.

PLoS One. 2013 Jul 9;8(7):e68106. doi: 10.1371/journal.pone.0068106. Print 2013.

14.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G; Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium.

Arch Neurol. 2011 May;68(5):594-8. doi: 10.1001/archneurol.2010.352. Epub 2011 Jan 10.

15.

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.

Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Cazeneuve C, Leguern E, Meininger V, Salachas F.

J Med Genet. 2012 Apr;49(4):258-63. doi: 10.1136/jmedgenet-2011-100699.

PMID:
22499346
16.

TARDBP mutations are not a frequent cause of ALS in Finnish patients.

Mentula HK, Tuovinen L, Penttilä S, Suominen T, Udd B, Palmio J.

Acta Myol. 2012 Oct;31(2):134-8.

17.

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Quadri M, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, Ticca A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Aug;12(3):203-9. doi: 10.1007/s10048-011-0288-3. Epub 2011 Jun 11.

18.

Mutational analysis of TARDBP in neurodegenerative diseases.

Ticozzi N, LeClerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH Jr, Landers JE.

Neurobiol Aging. 2011 Nov;32(11):2096-9. doi: 10.1016/j.neurobiolaging.2009.11.018. Epub 2009 Dec 23.

19.

Genetic architecture of ALS in Sardinia.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18.

20.

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1286-8. doi: 10.1136/jnnp.2008.163261.

PMID:
19864664
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