Troakes C - Search Results

1

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. Smith BN, et al. Among authors: troakes c. Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22. Neuron. 2014. PMID: 25374358 Free PMC article.

2

Abnormal TDP-43 expression is identified in the neocortex in cases of dementia pugilistica, but is mainly confined to the limbic system when identified in high and moderate stages of Alzheimer's disease.

King A, Sweeney F, Bodi I, Troakes C, Maekawa S, Al-Sarraj S. King A, et al. Among authors: troakes c. Neuropathology. 2010 Aug;30(4):408-19. doi: 10.1111/j.1440-1789.2009.01085.x. Epub 2010 Jan 19. Neuropathology. 2010. PMID: 20102526

3

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.

Nishimura AL, Zupunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo JM, Hortobágyi T, Shaw CE, Rogelj B. Nishimura AL, et al. Among authors: troakes c. Brain. 2010 Jun;133(Pt 6):1763-71. doi: 10.1093/brain/awq111. Epub 2010 May 14. Brain. 2010. PMID: 20472655

4

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. King A, et al. Among authors: troakes c. Neuropathology. 2011 Jun;31(3):239-49. doi: 10.1111/j.1440-1789.2010.01171.x. Epub 2010 Dec 1. Neuropathology. 2011. PMID: 21118398

5

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S, Rogelj B, Shaw CE. Hortobágyi T, et al. Among authors: troakes c. Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3. Epub 2011 Mar 1. Acta Neuropathol. 2011. PMID: 21360076 Free article.

6

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease.

Palmisano R, Golfi P, Heimann P, Shaw C, Troakes C, Schmitt-John T, Bartsch JW. Palmisano R, et al. Among authors: troakes c. BMC Neurosci. 2011 Mar 7;12:24. doi: 10.1186/1471-2202-12-24. BMC Neurosci. 2011. PMID: 21385376 Free PMC article.

7

Cyclin-dependent kinase 5 activator p25 is generated during memory formation and is reduced at an early stage in Alzheimer's disease.

Engmann O, Hortobágyi T, Thompson AJ, Guadagno J, Troakes C, Soriano S, Al-Sarraj S, Kim Y, Giese KP. Engmann O, et al. Among authors: troakes c. Biol Psychiatry. 2011 Jul 15;70(2):159-68. doi: 10.1016/j.biopsych.2011.04.011. Epub 2011 May 26. Biol Psychiatry. 2011. PMID: 21616478

8

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.

Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN, Warren JD. Rohrer JD, et al. Among authors: troakes c. Brain. 2011 Sep;134(Pt 9):2565-81. doi: 10.1093/brain/awr198. Brain. 2011. PMID: 21908872 Free PMC article.

9

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. Al-Sarraj S, et al. Among authors: troakes c. Acta Neuropathol. 2011 Dec;122(6):691-702. doi: 10.1007/s00401-011-0911-2. Epub 2011 Nov 19. Acta Neuropathol. 2011. PMID: 22101323

10

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. Troakes C, et al. Neuropathology. 2012 Oct;32(5):505-14. doi: 10.1111/j.1440-1789.2011.01286.x. Epub 2011 Dec 19. Neuropathology. 2012. PMID: 22181065

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