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Results: 1 to 20 of 90

Related Citations for PubMed (Select 24237396)

1.

Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations in TARDBP.

van Blitterswijk M, Rademakers R, van den Berg LH.

Neuropathol Appl Neurobiol. 2014 Apr;40(3):356-8. doi: 10.1111/nan.12099. No abstract available.

PMID:
24237396
2.

Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP.

Homma T, Nagaoka U, Kawata A, Mochizuki Y, Kawakami H, Maruyama H, Matsubara S, Komori T.

Neuropathol Appl Neurobiol. 2014 Feb;40(2):231-6. doi: 10.1111/nan.12090. No abstract available.

PMID:
24117534
3.

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.

4.

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
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.

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.

Swarup V, Phaneuf D, Bareil C, Robertson J, Rouleau GA, Kriz J, Julien JP.

Brain. 2011 Sep;134(Pt 9):2610-26. doi: 10.1093/brain/awr159. Epub 2011 Jul 13.

7.

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE.

Lancet Neurol. 2008 May;7(5):409-16. doi: 10.1016/S1474-4422(08)70071-1. Epub 2008 Apr 7.

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.

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
10.

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
11.

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis.

Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, Magariello A, Patitucci A, La Bella V, Sprovieri T, Tedeschi G, Citrigno L, Gabriele AL, Bono F, Monsurrò MR, Muglia M, Gambardella A, Quattrone A.

J Neurol Neurosurg Psychiatry. 2011 May;82(5):587-8. doi: 10.1136/jnnp.2009.198309. Epub 2010 Oct 19. No abstract available.

PMID:
20959352
12.
13.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.

Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.

14.

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
15.

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.

16.

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
17.

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
18.

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis.

Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.

Neurobiol Aging. 2012 May;33(5):1015.e1-6. doi: 10.1016/j.neurobiolaging.2010.07.007. Epub 2010 Aug 13.

PMID:
20708823
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.

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

Ticozzi N, Tiloca C, Mencacci NE, Morelli C, Doretti A, Rusconi D, Colombrita C, Sangalli D, Verde F, Finelli P, Messina S, Ratti A, Silani V.

J Neurol. 2013 Jan;260(1):85-92. doi: 10.1007/s00415-012-6589-0. Epub 2012 Jul 1.

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