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Items: 1 to 20 of 182

1.

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.

Baborie A, Griffiths TD, Jaros E, Perry R, McKeith IG, Burn DJ, Masuda-Suzukake M, Hasegawa M, Rollinson S, Pickering-Brown S, Robinson AC, Davidson YS, Mann DM.

Neuropathol Appl Neurobiol. 2015 Aug;41(5):601-12. doi: 10.1111/nan.12178. Epub 2015 Apr 30.

2.

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Davidson YS, Barker H, Robinson AC, Thompson JC, Harris J, Troakes C, Smith B, Al-Saraj S, Shaw C, Rollinson S, Masuda-Suzukake M, Hasegawa M, Pickering-Brown S, Snowden JS, Mann DM.

Acta Neuropathol Commun. 2014 Jun 20;2:70. doi: 10.1186/2051-5960-2-70.

3.

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S.

Acta Neuropathol Commun. 2013 Oct 14;1:68. doi: 10.1186/2051-5960-1-68.

4.

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

Davidson Y, Robinson AC, Liu X, Wu D, Troakes C, Rollinson S, Masuda-Suzukake M, Suzuki G, Nonaka T, Shi J, Tian J, Hamdalla H, Ealing J, Richardson A, Jones M, Pickering-Brown S, Snowden JS, Hasegawa M, Mann DM.

Neuropathol Appl Neurobiol. 2016 Apr;42(3):242-54. doi: 10.1111/nan.12292. Epub 2015 Dec 7.

5.

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.

Davidson YS, Flood L, Robinson AC, Nihei Y, Mori K, Rollinson S, Richardson A, Benson BC, Jones M, Snowden JS, Pickering-Brown S, Haass C, Lashley T, Mann DMA.

Acta Neuropathol Commun. 2017 Apr 21;5(1):31. doi: 10.1186/s40478-017-0437-5.

6.

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. Epub 2011 Nov 19.

PMID:
22101323
7.

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.

8.

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease.

Sakae N, Bieniek KF, Zhang YJ, Ross K, Gendron TF, Murray ME, Rademakers R, Petrucelli L, Dickson DW.

Acta Neuropathol Commun. 2018 Jul 20;6(1):63. doi: 10.1186/s40478-018-0564-7.

9.

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.

Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Arzberger T, Edbauer D.

Acta Neuropathol. 2015 Oct;130(4):537-55. doi: 10.1007/s00401-015-1450-z. Epub 2015 Jun 18. Erratum in: Acta Neuropathol. 2015 Oct;130(4):557-8.

10.

The neuropathology associated with repeat expansions in the C9ORF72 gene.

Mackenzie IR, Frick P, Neumann M.

Acta Neuropathol. 2014 Mar;127(3):347-57. doi: 10.1007/s00401-013-1232-4. Epub 2013 Dec 20. Review.

PMID:
24356984
11.

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. Epub 2012 Mar 18.

12.

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.

Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D.

Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17.

PMID:
24132570
13.

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.

Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2013 Feb;125(2):289-302. doi: 10.1007/s00401-012-1048-7. Epub 2012 Sep 28.

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.

Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration.

Yousef A, Robinson JL, Irwin DJ, Byrne MD, Kwong LK, Lee EB, Xu Y, Xie SX, Rennert L, Suh E, Van Deerlin VM, Grossman M, Lee VM, Trojanowski JQ.

Acta Neuropathol Commun. 2017 Sep 6;5(1):68. doi: 10.1186/s40478-017-0471-3.

16.

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.

Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD.

Brain. 2012 Mar;135(Pt 3):736-50. doi: 10.1093/brain/awr361.

17.

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration.

May S, Hornburg D, Schludi MH, Arzberger T, Rentzsch K, Schwenk BM, Grässer FA, Mori K, Kremmer E, Banzhaf-Strathmann J, Mann M, Meissner F, Edbauer D.

Acta Neuropathol. 2014 Oct;128(4):485-503. doi: 10.1007/s00401-014-1329-4. Epub 2014 Aug 14.

18.

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.

Bigio EH, Weintraub S, Rademakers R, Baker M, Ahmadian SS, Rademaker A, Weitner BB, Mao Q, Lee KH, Mishra M, Ganti RA, Mesulam MM.

Neuropathology. 2013 Apr;33(2):122-33. doi: 10.1111/j.1440-1789.2012.01332.x. Epub 2012 Jun 18.

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. Epub 2011 Dec 19.

PMID:
22181065
20.

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.

Schipper LJ, Raaphorst J, Aronica E, Baas F, de Haan R, de Visser M, Troost D.

Neuropathol Appl Neurobiol. 2016 Oct;42(6):547-60. doi: 10.1111/nan.12284. Review.

PMID:
26373655

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