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Items: 1 to 20 of 156

1.

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
2.

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
3.

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.

Lattante S, Conte A, Zollino M, Luigetti M, Del Grande A, Marangi G, Romano A, Marcaccio A, Meleo E, Bisogni G, Rossini PM, Sabatelli M.

Neurology. 2012 Jul 3;79(1):66-72. doi: 10.1212/WNL.0b013e31825dceca. Epub 2012 Jun 20.

PMID:
22722621
4.

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.

Piaceri I, Del Mastio M, Tedde A, Bagnoli S, Latorraca S, Massaro F, Paganini M, Corrado A, Sorbi S, Nacmias B.

Clin Genet. 2012 Jul;82(1):83-7. doi: 10.1111/j.1399-0004.2011.01726.x. Epub 2011 Jun 30.

PMID:
21651514
5.

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
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.

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.

J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24.

PMID:
20577002
8.

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
9.

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H.

J Neurol Sci. 2009 Sep 15;284(1-2):69-71. doi: 10.1016/j.jns.2009.04.017. Epub 2009 May 2.

PMID:
19411082
10.

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
11.

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, Drapeau P.

PLoS Genet. 2011 Aug;7(8):e1002214. doi: 10.1371/journal.pgen.1002214. Epub 2011 Aug 4.

12.

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
13.

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, Liu E, Donkervoort S, Zheng JG, Shi Y, Ahmeti KB, Brooks B, Engel WK, Siddique T.

Neurology. 2010 Aug 31;75(9):807-14. doi: 10.1212/WNL.0b013e3181f07e0c. Epub 2010 Jul 28.

14.

The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.

Syriani E, Morales M, Gamez J.

J Neurol Sci. 2009 Oct 15;285(1-2):46-53. doi: 10.1016/j.jns.2009.05.011. Epub 2009 Jun 13.

PMID:
19524271
15.

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS.

Kwon MJ, Baek W, Ki CS, Kim HY, Koh SH, Kim JW, Kim SH.

Neurobiol Aging. 2012 May;33(5):1017.e17-23. doi: 10.1016/j.neurobiolaging.2011.12.003. Epub 2012 Jan 15.

PMID:
22244934
16.

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
17.

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.

18.

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
19.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB.

Amyotroph Lateral Scler. 2012 Feb;13(2):217-22. doi: 10.3109/17482968.2011.643899.

PMID:
22292843
20.

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.

Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S.

J Neurol. 2005 Jul;252(7):782-8. Epub 2005 Mar 29.

PMID:
15789135
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