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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. Smith BN, et al. Among authors: wong ch. Neurobiol Aging. 2015 Mar;36(3):1602.e17-27. doi: 10.1016/j.neurobiolaging.2014.10.032. Epub 2014 Oct 31. Neurobiol Aging. 2015. PMID: 25499087 Free PMC article.
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.
Scotter EL, Smyth L, Bailey JAWT, Wong CH, de Majo M, Vance CA, Synek BJ, Turner C, Pereira J, Charleston A, Waldvogel HJ, Curtis MA, Dragunow M, Shaw CE, Smith BN, Faull RLM. Scotter EL, et al. Among authors: wong ch. Neurobiol Aging. 2017 Jan;49:214.e1-214.e5. doi: 10.1016/j.neurobiolaging.2016.06.019. Epub 2016 Jul 5. Neurobiol Aging. 2017. PMID: 27480424
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE. Smith BN, et al. Among authors: wong ch. Sci Transl Med. 2017 May 3;9(388):eaad9157. doi: 10.1126/scitranslmed.aad9157. Sci Transl Med. 2017. PMID: 28469040 Free PMC article.
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE. de Majo M, et al. Among authors: wong ch. Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25. Neurobiol Aging. 2018. PMID: 30033073 Free PMC article.
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN. Gotkine M, et al. Among authors: wong ch. Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4. Neurobiol Aging. 2021. PMID: 34272080
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.
Thomas-Jinu S, Gordon PM, Fielding T, Taylor R, Smith BN, Snowden V, Blanc E, Vance C, Topp S, Wong CH, Bielen H, Williams KL, McCann EP, Nicholson GA, Pan-Vazquez A, Fox AH, Bond CS, Talbot WS, Blair IP, Shaw CE, Houart C. Thomas-Jinu S, et al. Among authors: wong ch. Neuron. 2017 Apr 19;94(2):322-336.e5. doi: 10.1016/j.neuron.2017.03.026. Epub 2017 Apr 6. Neuron. 2017. PMID: 28392072 Free PMC article.
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.
Thomas-Jinu S, Gordon PM, Fielding T, Taylor R, Smith BN, Snowden V, Blanc E, Vance C, Topp S, Wong CH, Bielen H, Williams KL, McCann EP, Nicholson GA, Pan-Vazquez A, Fox AH, Bond CS, Talbot WS, Blair IP, Shaw CE, Houart C. Thomas-Jinu S, et al. Among authors: wong ch. Neuron. 2017 May 17;94(4):931. doi: 10.1016/j.neuron.2017.04.036. Neuron. 2017. PMID: 28521142 Free PMC article. No abstract available.
Dosimetric parameters predict radiation-induced temporal lobe necrosis in nasopharyngeal carcinoma patients: A systematic review and meta-analysis.
Dong J, Ng WT, Wong CHL, Li JS, Bollen H, Chow JCH, Eisbruch A, Lee AWM, Lee VHF, Ng SP, Nuyts S, Smee R, Ferlito A. Dong J, et al. Among authors: wong chl. Radiother Oncol. 2024 Mar 26;195:110258. doi: 10.1016/j.radonc.2024.110258. Online ahead of print. Radiother Oncol. 2024. PMID: 38537680 Free article. Review.
1,320 results