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Results: 1 to 20 of 47

1.

LRRK2 exonic variants and risk of multiple system atrophy.

Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA.

Neurology. 2014 Nov 5. pii: 10.1212/WNL.0000000000001078. [Epub ahead of print]

PMID:
25378673
[PubMed - as supplied by publisher]
2.

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE; SLAGEN Consortium.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

PMID:
25374358
[PubMed - in process]
3.

The phenotypic spectrum of progressive supranuclear palsy: A retrospective multicenter study of 100 definite cases.

Respondek G, Stamelou M, Kurz C, Ferguson LW, Rajput A, Chiu WZ, van Swieten JC, Troakes C, Al Sarraj S, Gelpi E, Gaig C, Tolosa E, Oertel WH, Giese A, Roeber S, Arzberger T, Wagenpfeil S, Höglinger GU; for the Movement Disorder Society-endorsed PSP Study Group.

Mov Disord. 2014 Nov 5. doi: 10.1002/mds.26054. [Epub ahead of print]

PMID:
25370486
[PubMed - as supplied by publisher]
4.

Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia.

Pidsley R, Viana J, Hannon E, Spiers HH, Troakes C, Al-Saraj S, Mechawar N, Turecki G, Schalkwyk LC, Bray NJ, Mill J.

Genome Biol. 2014 Oct 28;15(10):483. [Epub ahead of print]

PMID:
25347937
[PubMed - as supplied by publisher]
5.

Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease.

Lunnon K, Smith R, Hannon E, De Jager PL, Srivastava G, Volta M, Troakes C, Al-Sarraj S, Burrage J, Macdonald R, Condliffe D, Harries LW, Katsel P, Haroutunian V, Kaminsky Z, Joachim C, Powell J, Lovestone S, Bennett DA, Schalkwyk LC, Mill J.

Nat Neurosci. 2014 Sep;17(9):1164-70. doi: 10.1038/nn.3782. Epub 2014 Aug 17.

PMID:
25129077
[PubMed - in process]
6.

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J; Alzheimer's Research UK Consortium, Morgan K, Powell JF, Singleton A, Hardy J.

Neurobiol Aging. 2014 Jun 16. pii: S0197-4580(14)00403-5. doi: 10.1016/j.neurobiolaging.2014.06.002. [Epub ahead of print]

PMID:
25104557
[PubMed - as supplied by publisher]
Free Article
7.

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns N, Halliday GM, Mann D, Pickering-Brown S, Dickson DW, Singleton A, Hardy J.

Hum Mol Genet. 2014 Dec 1;23(23):6139-46. doi: 10.1093/hmg/ddu334. Epub 2014 Jun 27.

PMID:
24973356
[PubMed - in process]
Free PMC Article
8.

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 - in process]
Free PMC Article
9.

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, Harris J, Bras J; ARUK Consortium, Morgan K, Powell JF, Singleton A, Hardy J.

Neurobiol Aging. 2014 Oct;35(10):2422.e13-6. doi: 10.1016/j.neurobiolaging.2014.04.026. Epub 2014 May 2.

PMID:
24880964
[PubMed - in process]
Free PMC Article
10.

Cross-region reduction in 5-hydroxymethylcytosine in Alzheimer's disease brain.

Condliffe D, Wong A, Troakes C, Proitsi P, Patel Y, Chouliaras L, Fernandes C, Cooper J, Lovestone S, Schalkwyk L, Mill J, Lunnon K.

Neurobiol Aging. 2014 Aug;35(8):1850-4. doi: 10.1016/j.neurobiolaging.2014.02.002. Epub 2014 Feb 6.

PMID:
24679604
[PubMed - in process]
11.

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain.

Viana J, Pidsley R, Troakes C, Spiers H, Wong CC, Al-Sarraj S, Craig I, Schalkwyk L, Mill J.

Epigenetics. 2014 Apr;9(4):587-99. doi: 10.4161/epi.27806. Epub 2014 Jan 29.

PMID:
24476718
[PubMed - in process]
Free Article
12.

Neuron-specific alterations in signal transduction pathways associated with Alzheimer's disease.

Gerschütz A, Heinsen H, Grünblatt E, Wagner AK, Bartl J, Meissner C, Fallgatter AJ, Al-Sarraj S, Troakes C, Ferrer I, Arzberger T, Deckert J, Riederer P, Fischer M, Tatschner T, Monoranu CM.

J Alzheimers Dis. 2014;40(1):135-42. doi: 10.3233/JAD-131280.

PMID:
24334724
[PubMed - indexed for MEDLINE]
13.

Compromised paraspeckle formation as a pathogenic factor in FUSopathies.

Shelkovnikova TA, Robinson HK, Troakes C, Ninkina N, Buchman VL.

Hum Mol Genet. 2014 May 1;23(9):2298-312. doi: 10.1093/hmg/ddt622. Epub 2013 Dec 11.

PMID:
24334610
[PubMed - in process]
Free PMC Article
14.

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.

Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE.

Cell Rep. 2013 Dec 12;5(5):1178-86. doi: 10.1016/j.celrep.2013.10.049. Epub 2013 Nov 27.

PMID:
24290757
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Simulated surgical-type cerebral biopsies from post-mortem brains allows accurate neuropathological diagnoses in the majority of neurodegenerative disease groups.

King A, Maekawa S, Bodi I, Troakes C, Curran O, Ashkan K, Al-Sarraj S.

Acta Neuropathol Commun. 2013 Aug 19;1(1):53. doi: 10.1186/2051-5960-1-53.

PMID:
24252649
[PubMed - in process]
Free PMC Article
16.

Neuron-specific mitochondrial DNA deletion levels in sporadic Alzheimer's disease.

Gerschütz A, Heinsen H, Grünblatt E, Wagner AK, Bartl J, Meissner C, Fallgatter AJ, Al-Sarraj S, Troakes C, Ferrer I, Arzberger T, Deckert J, Riederer P, Fischer M, Tatschner T, Monoranu CM.

Curr Alzheimer Res. 2013 Dec;10(10):1041-6. Review.

PMID:
24156256
[PubMed - indexed for MEDLINE]
17.

Alzheimer's disease susceptibility variants in the MS4A6A gene are associated with altered levels of MS4A6A expression in blood.

Proitsi P, Lee SH, Lunnon K, Keohane A, Powell J, Troakes C, Al-Sarraj S, Furney S, Soininen H, Kłoszewska I, Mecocci P, Tsolaki M, Vellas B, Lovestone S, Hodges A; AddNeuroMed Consortium.

Neurobiol Aging. 2014 Feb;35(2):279-90. doi: 10.1016/j.neurobiolaging.2013.08.002. Epub 2013 Sep 21.

PMID:
24064185
[PubMed - indexed for MEDLINE]
18.

Prostate-derived sterile 20-like kinases (PSKs/TAOKs) phosphorylate tau protein and are activated in tangle-bearing neurons in Alzheimer disease.

Tavares IA, Touma D, Lynham S, Troakes C, Schober M, Causevic M, Garg R, Noble W, Killick R, Bodi I, Hanger DP, Morris JD.

J Biol Chem. 2013 May 24;288(21):15418-29. doi: 10.1074/jbc.M112.448183. Epub 2013 Apr 12.

PMID:
23585562
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C, Miller CC, Hortobágyi T, Dragunow M, Rogelj B, Shaw CE.

Hum Mol Genet. 2013 Jul 1;22(13):2676-88. doi: 10.1093/hmg/ddt117. Epub 2013 Mar 7.

PMID:
23474818
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Accuracy of the National Institute for Neurological Disorders and Stroke/Society for Progressive Supranuclear Palsy and neuroprotection and natural history in Parkinson plus syndromes criteria for the diagnosis of progressive supranuclear palsy.

Respondek G, Roeber S, Kretzschmar H, Troakes C, Al-Sarraj S, Gelpi E, Gaig C, Chiu WZ, van Swieten JC, Oertel WH, Höglinger GU.

Mov Disord. 2013 Apr;28(4):504-9. doi: 10.1002/mds.25327. Epub 2013 Feb 21.

PMID:
23436751
[PubMed - indexed for MEDLINE]

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