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Results: 1 to 20 of 121

1.

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death.

Wen X, Tan W, Westergard T, Krishnamurthy K, Markandaiah SS, Shi Y, Lin S, Shneider NA, Monaghan J, Pandey UB, Pasinelli P, Ichida JK, Trotti D.

Neuron. 2014 Dec 17;84(6):1213-25. doi: 10.1016/j.neuron.2014.12.010.

PMID:
25521377
[PubMed - in process]
2.

C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.

Hsiao CT, Tsai PC, Liao YC, Lee YC, Soong BW.

J Neurol Sci. 2014 Nov 6;347(1-2):322-324. doi: 10.1016/j.jns.2014.10.042. [Epub ahead of print]

PMID:
25467142
[PubMed - as supplied by publisher]
3.

Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report.

Gramaglia C, Cantello R, Terazzi E, Carecchio M, D Alfonso S, Chieppa N, Rizza M, Zeppegno P.

BMC Neurol. 2014 Nov 30;14(1):228. [Epub ahead of print]

PMID:
25433797
[PubMed - as supplied by publisher]
Free PMC Article
4.

Biomarker development for C9orf72 repeat expansion in ALS.

Mendez EF, Sattler R.

Brain Res. 2014 Sep 27. pii: S0006-8993(14)01263-3. doi: 10.1016/j.brainres.2014.09.041. [Epub ahead of print]

PMID:
25261695
[PubMed - as supplied by publisher]
5.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38.

PMID:
25239657
[PubMed - in process]
Free PMC Article
6.

Tale of two diseases: amyotrophic lateral sclerosis and frontotemporal dementia.

Verma A.

Neurol India. 2014 Jul-Aug;62(4):347-51. doi: 10.4103/0028-3886.141174. Review.

PMID:
25237937
[PubMed - indexed for MEDLINE]
Free Article
7.

A UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.

Ugwu F, Rollinson S, Harris J, Gerhard A, Richardson A, Jones M, Mann D, Snowden J, Pickering-Brown S.

Neurobiol Aging. 2015 Jan;36(1):546.e15-6. doi: 10.1016/j.neurobiolaging.2014.08.002. Epub 2014 Aug 6.

PMID:
25179229
[PubMed - in process]
8.

Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.

Origone P, Accardo J, Verdiani S, Lamp M, Arnaldi D, Bellone E, Picco A, Morbelli S, Mandich P, Nobili F.

Neurocase. 2014 Aug 20:1-6. [Epub ahead of print]

PMID:
25138285
[PubMed - as supplied by publisher]
9.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.

PMID:
25098532
[PubMed - indexed for MEDLINE]
10.

A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.

Puoti G, Lerza MC, Ferretti MG, Bugiani O, Tagliavini F, Rossi G.

J Alzheimers Dis. 2014;42(3):939-47. doi: 10.3233/JAD-140717.

PMID:
25024321
[PubMed - in process]
11.

Parkinsonian syndrome in familial frontotemporal dementia.

Siuda J, Fujioka S, Wszolek ZK.

Parkinsonism Relat Disord. 2014 Sep;20(9):957-64. doi: 10.1016/j.parkreldis.2014.06.004. Epub 2014 Jun 13.

PMID:
24998994
[PubMed - in process]
Free Article
12.

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.

PMID:
24950788
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

Bennion Callister J, Pickering-Brown SM.

Exp Neurol. 2014 Dec;262PB:84-90. doi: 10.1016/j.expneurol.2014.06.001. Epub 2014 Jun 8. Review.

PMID:
24915640
[PubMed - as supplied by publisher]
Free PMC Article
14.

Psychosis in frontotemporal dementia.

Shinagawa S, Nakajima S, Plitman E, Graff-Guerrero A, Mimura M, Nakayama K, Miller BL.

J Alzheimers Dis. 2014;42(2):485-99. doi: 10.3233/JAD-140312.

PMID:
24898651
[PubMed - in process]
15.

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.

Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R.

Eur Neurol. 2014;72(1-2):64-71. doi: 10.1159/000362267. Epub 2014 May 24.

PMID:
24861139
[PubMed - in process]
16.

A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases.

Bit-Ivan EN, Suh E, Shim HS, Weintraub S, Hyman BT, Arnold SE, McCarty-Wood E, Van Deerlin VM, Schneider JA, Trojanowski JQ, Frosch MP, Baker MC, Rademakers R, Mesulam M, Bigio EH.

J Neuropathol Exp Neurol. 2014 May;73(5):467-73. doi: 10.1097/NEN.0000000000000070.

PMID:
24709683
[PubMed - indexed for MEDLINE]
17.

C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.

Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM.

Neurobiol Aging. 2014 Jul;35(7):1780.e13-7. doi: 10.1016/j.neurobiolaging.2014.01.149. Epub 2014 Feb 5.

PMID:
24612676
[PubMed - indexed for MEDLINE]
18.

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD, Wang J.

Nature. 2014 Mar 13;507(7491):195-200. doi: 10.1038/nature13124. Epub 2014 Mar 5.

PMID:
24598541
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Altered body schema processing in frontotemporal dementia with C9ORF72 mutations.

Downey LE, Fletcher PD, Golden HL, Mahoney CJ, Agustus JL, Schott JM, Rohrer JD, Beck J, Mead S, Rossor MN, Crutch SJ, Warren JD.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1016-23. doi: 10.1136/jnnp-2013-306995. Epub 2014 Feb 12.

PMID:
24521566
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile.

Devenney E, Hornberger M, Irish M, Mioshi E, Burrell J, Tan R, Kiernan MC, Hodges JR.

JAMA Neurol. 2014 Mar;71(3):331-9. doi: 10.1001/jamaneurol.2013.6002.

PMID:
24445580
[PubMed - indexed for MEDLINE]

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