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Items: 1 to 20 of 227

1.

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.

Kovacs GG, van der Zee J, Hort J, Kristoferitsch W, Leitha T, Höftberger R, Ströbel T, Van Broeckhoven C, Matej R.

Neuropathology. 2016 Feb;36(1):27-38. doi: 10.1111/neup.12233. Epub 2015 Aug 3.

PMID:
26234378
2.

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. Epub 2011 Nov 15.

3.

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
4.

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.

5.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.

6.

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.

7.

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW.

Acta Neuropathol. 2013 Oct;126(4):545-54. doi: 10.1007/s00401-013-1161-2. Epub 2013 Aug 7.

8.

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.

9.

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

King A, Al-Sarraj S, Troakes C, Smith BN, Maekawa S, Iovino M, Spillantini MG, Shaw CE.

Acta Neuropathol. 2013 Feb;125(2):303-10. doi: 10.1007/s00401-012-1050-0. Epub 2012 Sep 28.

PMID:
23053136
10.

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.

11.

Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43.

King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S.

Neuropathology. 2011 Jun;31(3):239-49. doi: 10.1111/j.1440-1789.2010.01171.x. Epub 2010 Dec 1.

PMID:
21118398
12.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic SA, Lacomis D, Taylor JP, Rademakers R, Mackenzie IRA.

Acta Neuropathol Commun. 2017 Dec 7;5(1):96. doi: 10.1186/s40478-017-0493-x.

13.

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
14.

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene.

Almeida MR, Letra L, Pires P, Santos A, Rebelo O, Guerreiro R, van der Zee J, Van Broeckhoven C, Santana I.

Neurobiol Aging. 2016 Apr;40:191.e1-191.e8. doi: 10.1016/j.neurobiolaging.2015.12.015. Epub 2015 Dec 30.

PMID:
26839080
15.

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, Hodges JR, Kwok JB.

Neurology. 2012 Sep 4;79(10):995-1001. doi: 10.1212/WNL.0b013e3182684634. Epub 2012 Aug 8.

16.

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.

17.

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS.

JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849.

18.

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.

Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, Rousseau L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Rademakers R, Lagier-Tourenne C, Edbauer D, Cleveland DW, Dickson DW, Petrucelli L, Boylan KB.

Acta Neuropathol. 2015 Oct;130(4):559-73. doi: 10.1007/s00401-015-1474-4. Epub 2015 Sep 8.

19.

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.

20.

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. Epub 2012 Sep 21.

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