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Results: 1 to 20 of 179

1.

A proteome-scale map of the human interactome network.

Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Trigg SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabási AL, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP, Vidal M.

Cell. 2014 Nov 20;159(5):1212-26. doi: 10.1016/j.cell.2014.10.050.

PMID:
25416956
[PubMed - in process]
2.

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.

Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EM, Partridge L, Isaacs AM.

Science. 2014 Sep 5;345(6201):1192-4. doi: 10.1126/science.1256800. Epub 2014 Aug 7.

PMID:
25103406
[PubMed - indexed for MEDLINE]
3.

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]
4.

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.

Kwon I, Xiang S, Kato M, Wu L, Theodoropoulos P, Wang T, Kim J, Yun J, Xie Y, McKnight SL.

Science. 2014 Sep 5;345(6201):1139-45. doi: 10.1126/science.1254917. Epub 2014 Jul 31.

PMID:
25081482
[PubMed - indexed for MEDLINE]
5.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH Jr, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH.

Ann Neurol. 2014 Jul;76(1):120-33. doi: 10.1002/ana.24198. Epub 2014 Jun 27.

PMID:
24931836
[PubMed - indexed for MEDLINE]
6.

C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle.

Türk M, Haaker G, Winter L, Just W, Nickel FT, Linker RA, Chevessier F, Schröder R.

Muscle Nerve. 2014 Sep;50(3):454-5. doi: 10.1002/mus.24283. No abstract available.

PMID:
24817207
[PubMed - indexed for MEDLINE]
7.

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.

Bieniek KF, van Blitterswijk M, Baker MC, Petrucelli L, Rademakers R, Dickson DW.

JAMA Neurol. 2014 Jun;71(6):775-81. doi: 10.1001/jamaneurol.2013.6368.

PMID:
24756204
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

Goldman JS, Quinzii C, Dunning-Broadbent J, Waters C, Mitsumoto H, Brannagan TH 3rd, Cosentino S, Huey ED, Nagy P, Kuo SH.

JAMA Neurol. 2014 Jun;71(6):771-4. doi: 10.1001/jamaneurol.2013.5762.

PMID:
24733620
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study.

Van Laere K, Vanhee A, Verschueren J, De Coster L, Driesen A, Dupont P, Robberecht W, Van Damme P.

JAMA Neurol. 2014 May;71(5):553-61. doi: 10.1001/jamaneurol.2014.62.

PMID:
24615479
[PubMed - indexed for MEDLINE]
10.

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]
11.

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
12.

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

Waite AJ, Bäumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ.

Neurobiol Aging. 2014 Jul;35(7):1779.e5-1779.e13. doi: 10.1016/j.neurobiolaging.2014.01.016. Epub 2014 Jan 17.

PMID:
24559645
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.

Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, King AE, Atkin JD.

Hum Mol Genet. 2014 Jul 1;23(13):3579-95. doi: 10.1093/hmg/ddu068. Epub 2014 Feb 18.

PMID:
24549040
[PubMed - in process]
Free PMC Article
14.

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
15.

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

Woollacott IO, Mead S.

Acta Neuropathol. 2014 Mar;127(3):319-32. doi: 10.1007/s00401-014-1253-7. Epub 2014 Feb 11. Review.

PMID:
24515836
[PubMed - indexed for MEDLINE]
16.

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion.

Pliner HA, Mann DM, Traynor BJ.

Acta Neuropathol. 2014 Mar;127(3):391-6. doi: 10.1007/s00401-014-1250-x. Epub 2014 Feb 5.

PMID:
24496499
[PubMed - indexed for MEDLINE]
17.

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Cooper-Knock J, Shaw PJ, Kirby J.

Acta Neuropathol. 2014 Mar;127(3):333-45. doi: 10.1007/s00401-014-1251-9. Epub 2014 Feb 4. Review.

PMID:
24493408
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.

Proudfoot M, Gutowski NJ, Edbauer D, Hilton DA, Stephens M, Rankin J, Mackenzie IR.

Acta Neuropathol. 2014 Mar;127(3):451-8. doi: 10.1007/s00401-014-1245-7. Epub 2014 Jan 21.

PMID:
24445903
[PubMed - indexed for MEDLINE]
19.

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]
20.

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ, Frosch MP, Alafuzoff I, Antonell A, Bogdanovic N, Brooks W, Cairns NJ, Cooper-Knock J, Cotman C, Cras P, Cruts M, De Deyn PP, DeCarli C, Dobson-Stone C, Engelborghs S, Fox N, Galasko D, Gearing M, Gijselinck I, Grafman J, Hartikainen P, Hatanpaa KJ, Highley JR, Hodges J, Hulette C, Ince PG, Jin LW, Kirby J, Kofler J, Kril J, Kwok JB, Levey A, Lieberman A, Llado A, Martin JJ, Masliah E, McDermott CJ, McKee A, McLean C, Mead S, Miller CA, Miller J, Munoz DG, Murrell J, Paulson H, Piguet O, Rossor M, Sanchez-Valle R, Sano M, Schneider J, Silbert LC, Spina S, van der Zee J, Van Langenhove T, Warren J, Wharton SB, White CL 3rd, Woltjer RL, Trojanowski JQ, Lee VM, Van Deerlin V, Chen-Plotkin AS.

Acta Neuropathol. 2014 Mar;127(3):407-18. doi: 10.1007/s00401-013-1239-x. Epub 2014 Jan 19.

PMID:
24442578
[PubMed - indexed for MEDLINE]
Free PMC Article

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