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Items: 1 to 20 of 304

1.

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.

2.

ALS and FTLD: two faces of TDP-43 proteinopathy.

Liscic RM, Grinberg LT, Zidar J, Gitcho MA, Cairns NJ.

Eur J Neurol. 2008 Aug;15(8):772-80. doi: 10.1111/j.1468-1331.2008.02195.x. Review.

3.

[TDP-43 proteinopathies: ALS and frontotemporal dementias].

Prudlo J.

Fortschr Neurol Psychiatr. 2009 Aug;77 Suppl 1:S25-7. doi: 10.1055/s-0028-1109602. Epub 2009 Aug 14. German.

PMID:
19685386
4.

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.

5.

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.

6.

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.

Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I, Shaw CE, Hortobagyi T, Al-Sarraj S.

Neuropathology. 2009 Dec;29(6):672-83. doi: 10.1111/j.1440-1789.2009.01029.x. Epub 2009 Jun 3.

PMID:
19496940
7.

TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy.

Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M, Rademakers R, Chakraverty S, Cruchaga C, Morris JC, Goate AM, Cairns NJ.

Acta Neuropathol. 2009 Nov;118(5):633-45. doi: 10.1007/s00401-009-0571-7. Epub 2009 Jul 18.

8.

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.

Winton MJ, Van Deerlin VM, Kwong LK, Yuan W, Wood EM, Yu CE, Schellenberg GD, Rademakers R, Caselli R, Karydas A, Trojanowski JQ, Miller BL, Lee VM.

FEBS Lett. 2008 Jun 25;582(15):2252-6. doi: 10.1016/j.febslet.2008.05.024. Epub 2008 May 27.

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.

Molecular neuropathology of TDP-43 proteinopathies.

Neumann M.

Int J Mol Sci. 2009 Jan;10(1):232-46. doi: 10.3390/ijms10010232. Epub 2009 Jan 9. Review.

11.

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis.

Pesiridis GS, Lee VM, Trojanowski JQ.

Hum Mol Genet. 2009 Oct 15;18(R2):R156-62. doi: 10.1093/hmg/ddp303. Review.

12.

The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia.

Mackenzie IR, Rademakers R.

Curr Opin Neurol. 2008 Dec;21(6):693-700. doi: 10.1097/WCO.0b013e3283168d1d. Review.

13.

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.

PLoS One. 2008 Jun 11;3(6):e2450. doi: 10.1371/journal.pone.0002450.

14.

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
15.

TDP-43 in differential diagnosis of motor neuron disorders.

Dickson DW, Josephs KA, Amador-Ortiz C.

Acta Neuropathol. 2007 Jul;114(1):71-9. Epub 2007 Jun 14.

PMID:
17569066
16.

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Hasegawa M, Arai T, Nonaka T, Kametani F, Yoshida M, Hashizume Y, Beach TG, Buratti E, Baralle F, Morita M, Nakano I, Oda T, Tsuchiya K, Akiyama H.

Ann Neurol. 2008 Jul;64(1):60-70. doi: 10.1002/ana.21425.

17.

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.

Janssens J, Van Broeckhoven C.

Hum Mol Genet. 2013 Oct 15;22(R1):R77-87. doi: 10.1093/hmg/ddt349. Epub 2013 Jul 29. Review.

18.

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ.

Ann Neurol. 2007 May;61(5):427-34.

PMID:
17469116
19.

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Janssens J, Kleinberger G, Wils H, Van Broeckhoven C.

Biochem Soc Trans. 2011 Aug;39(4):954-9. doi: 10.1042/BST0390954. Review.

PMID:
21787329
20.

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

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