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Items: 1 to 20 of 200

1.

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

Collins M, Riascos D, Kovalik T, An J, Krupa K, Krupa K, Hood BL, Conrads TP, Renton AE, Traynor BJ, Bowser R.

Acta Neuropathol. 2012 Nov;124(5):717-32. doi: 10.1007/s00401-012-1045-x.

2.

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS.

Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobágyi T, Shaw CE.

Acta Neuropathol. 2011 Dec;122(6):691-702. doi: 10.1007/s00401-011-0911-2.

PMID:
22101323
3.

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.

Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VM, Trojanowski JQ.

Acta Neuropathol. 2012 Jun;123(6):825-39. doi: 10.1007/s00401-012-0970-z.

4.

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

Gomez-Deza J, Lee YB, Troakes C, Nolan M, Al-Sarraj S, Gallo JM, Shaw CE.

Acta Neuropathol Commun. 2015 Jun 25;3:38. doi: 10.1186/s40478-015-0218-y.

5.

Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43).

Bentmann E, Neumann M, Tahirovic S, Rodde R, Dormann D, Haass C.

J Biol Chem. 2012 Jun 29;287(27):23079-94. doi: 10.1074/jbc.M111.328757.

6.

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S, Rogelj B, Shaw CE.

Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3.

PMID:
21360076
7.

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.

PMID:
19496940
8.

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations.

Neumann M, Valori CF, Ansorge O, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ishihara K, Ang LC, Bilbao JM, Mackenzie IR.

Acta Neuropathol. 2012 Nov;124(5):705-16. doi: 10.1007/s00401-012-1020-6.

PMID:
22842875
9.
10.

Atypical FTLD-FUS associated with ALS-TDP: a case report.

Kobayashi Z, Arai T, Yokota O, Tsuchiya K, Hosokawa M, Oshima K, Niizato K, Akiyama H, Mizusawa H.

Neuropathology. 2013 Feb;33(1):83-6. doi: 10.1111/j.1440-1789.2012.01325.x.

PMID:
22640227
11.

Lower motor neuron involvement in TAR DNA-binding protein of 43 kDa-related frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Riku Y, Watanabe H, Yoshida M, Tatsumi S, Mimuro M, Iwasaki Y, Katsuno M, Iguchi Y, Masuda M, Senda J, Ishigaki S, Udagawa T, Sobue G.

JAMA Neurol. 2014 Feb;71(2):172-9. doi: 10.1001/jamaneurol.2013.5489.

PMID:
24378564
12.

Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death.

Xiao S, Sanelli T, Chiang H, Sun Y, Chakrabartty A, Keith J, Rogaeva E, Zinman L, Robertson J.

Acta Neuropathol. 2015 Jul;130(1):49-61. doi: 10.1007/s00401-015-1412-5.

13.

RBM45 homo-oligomerization mediates association with ALS-linked proteins and stress granules.

Li Y, Collins M, Geiser R, Bakkar N, Riascos D, Bowser R.

Sci Rep. 2015 Sep 22;5:14262. doi: 10.1038/srep14262.

14.

Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases.

Porta S, Kwong LK, Trojanowski JQ, Lee VM.

J Neuropathol Exp Neurol. 2015 Apr;74(4):380-7. doi: 10.1097/NEN.0000000000000182.

15.

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration.

Wils H, Kleinberger G, Janssens J, Pereson S, Joris G, Cuijt I, Smits V, Ceuterick-de Groote C, Van Broeckhoven C, Kumar-Singh S.

Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3858-63. doi: 10.1073/pnas.0912417107.

16.

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y.

17.

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.

Neumann M, Bentmann E, Dormann D, Jawaid A, DeJesus-Hernandez M, Ansorge O, Roeber S, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ang LC, Bilbao J, Rademakers R, Haass C, Mackenzie IR.

Brain. 2011 Sep;134(Pt 9):2595-609. doi: 10.1093/brain/awr201.

18.

[Clinical and pathological spectrum of TDP-43 associated ALS].

Onodera O, Yokoseki A, Tan CF, Ishihara T, Nishiira Y, Toyoshima Y, Kakita A, Nishizawa M, Takahashi H.

Rinsho Shinkeigaku. 2010 Nov;50(11):940-2. Review. Japanese.

PMID:
21921519
19.

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklós L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobágyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S.

Neuropathology. 2012 Oct;32(5):505-14. doi: 10.1111/j.1440-1789.2011.01286.x.

PMID:
22181065
20.

Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS.

Ito D, Suzuki N.

Neurology. 2011 Oct 25;77(17):1636-43. doi: 10.1212/WNL.0b013e3182343365. Review.

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