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Results: 1 to 20 of 54

1.

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes.

Jones AR, Troakes C, King A, Sahni V, De Jong S, Bossers K, Papouli E, Mirza M, Al-Sarraj S, Shaw CE, Shaw PJ, Kirby J, Veldink JH, Macklis JD, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2015 Feb 19. pii: S0197-4580(15)00117-7. doi: 10.1016/j.neurobiolaging.2015.02.017. [Epub ahead of print]

PMID:
25801576
2.

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport.

Štalekar M, Yin X, Rebolj K, Darovic S, Troakes C, Mayr M, Shaw CE, Rogelj B.

Neuroscience. 2015 May 7;293:157-70. doi: 10.1016/j.neuroscience.2015.02.046. Epub 2015 Mar 2.

PMID:
25743254
3.

Control tissue in brain banking: the importance of thorough neuropathological assessment.

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

J Neural Transm. 2015 Feb 12. [Epub ahead of print]

PMID:
25673433
4.

Gamma-synuclein pathology in amyotrophic lateral sclerosis.

Peters OM, Shelkovnikova T, Highley JR, Cooper-Knock J, Hortobágyi T, Troakes C, Ninkina N, Buchman VL.

Ann Clin Transl Neurol. 2015 Jan;2(1):29-37. doi: 10.1002/acn3.143. Epub 2014 Dec 12.

5.

Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease.

Tiwari SS, d'Orange M, Troakes C, Shurovi BN, Engmann O, Noble W, Hortobágyi T, Giese KP.

Mol Brain. 2015 Jan 29;8(1):6. doi: 10.1186/s13041-015-0096-z.

6.

Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer's disease progression: CX3CL1, TREM2, and PPARγ

Strobel S, Grünblatt E, Riederer P, Heinsen H, Arzberger T, Al-Sarraj S, Troakes C, Ferrer I, Monoranu CM.

J Neural Transm. 2015 Jan 18. [Epub ahead of print]

PMID:
25596843
7.

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Smith BN, Vance C, Scotter EL, Troakes C, Wong CH, Topp S, Maekawa S, King A, Mitchell JC, Lund K, Al-Chalabi A, Ticozzi N, Silani V, Sapp P, Brown RH Jr, Landers JE, Al-Sarraj S, Shaw CE.

Neurobiol Aging. 2015 Mar;36(3):1602.e17-27. doi: 10.1016/j.neurobiolaging.2014.10.032. Epub 2014 Oct 31.

8.

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 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5.

PMID:
25378673
9.

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.

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

PMID:
25374358
10.

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; Movement Disorder Society-endorsed PSP Study Group.

Mov Disord. 2014 Dec;29(14):1758-66. doi: 10.1002/mds.26054. Epub 2014 Nov 5.

PMID:
25370486
11.

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

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

Genome Biol. 2014;15(10):483.

12.

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
13.

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 Dec;35(12):2881.e1-6. doi: 10.1016/j.neurobiolaging.2014.06.002. Epub 2014 Jun 16.

14.

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.

15.

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.

16.

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.

17.

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
18.

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.

19.

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
20.

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.

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