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2014 3
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2017 10
2018 15
2019 6
2024 0

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39 results

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Page 1
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, Basak AN, Morrison KE, Shaw CE, Al-Chalabi A, Landers JE, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, McDermott CJ, Hautbergue GM, Kirby J, Shaw PJ. Cooper-Knock J, et al. Cell Rep. 2019 Feb 26;26(9):2298-2306.e5. doi: 10.1016/j.celrep.2019.02.006. Cell Rep. 2019. PMID: 30811981 Free PMC article.
Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis.
Allen SP, Hall B, Castelli LM, Francis L, Woof R, Siskos AP, Kouloura E, Gray E, Thompson AG, Talbot K, Higginbottom A, Myszczynska M, Allen CF, Stopford MJ, Hemingway J, Bauer CS, Webster CP, De Vos KJ, Turner MR, Keun HC, Hautbergue GM, Ferraiuolo L, Shaw PJ. Allen SP, et al. Brain. 2019 Mar 1;142(3):586-605. doi: 10.1093/brain/awy353. Brain. 2019. PMID: 30698736 Free PMC article.
Combined fused in sarcoma-positive (FUS+) basophilic inclusion body disease and atypical tauopathy presenting with an amyotrophic lateral sclerosis/motor neurone disease (ALS/MND)-plus phenotype.
Wharton SB, Verber NS, Wagner BE, Highley JR, Fillingham DJ, Waller R, Strand K, Ince PG, Shaw PJ. Wharton SB, et al. Neuropathol Appl Neurobiol. 2019 Oct;45(6):586-596. doi: 10.1111/nan.12542. Epub 2019 Feb 19. Neuropathol Appl Neurobiol. 2019. PMID: 30659642 Free article.
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA, Hoggard N, O'Malley R, Robinson MK, Beauchamp NJ, Segamogaite R, Martindale J, Rodgers T, Rao G, Sarrigiannis P, Shanmugarajah P, Zis P, Sharrack B, McDermott CJ, Shaw PJ, Hadjivassiliou M. Hewamadduma CA, et al. Neurol Genet. 2018 Oct 24;4(6):e279. doi: 10.1212/NXG.0000000000000279. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533525 Free PMC article.
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Gkazi SA, Troakes C, Topp S, Miller JW, Vance CA, Sreedharan J, Al-Chalabi A, Kirby J, Shaw PJ, Al-Sarraj S, King A, Smith BN, Shaw CE. Gkazi SA, et al. Neurobiol Aging. 2019 Jan;73:229.e5-229.e9. doi: 10.1016/j.neurobiolaging.2018.08.015. Epub 2018 Aug 24. Neurobiol Aging. 2019. PMID: 30348461
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA; Project MinE ALS Sequencing Consortium. Tazelaar GHP, et al. Neurobiol Aging. 2019 Feb;74:234.e9-234.e15. doi: 10.1016/j.neurobiolaging.2018.09.012. Epub 2018 Sep 22. Neurobiol Aging. 2019. PMID: 30342764 Free PMC article.
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR, Jones AR, Opie-Martin S, Shatunov A, Iacoangeli A, Al Khleifat A, Smith BN, Topp S, Morrison KE, Shaw PJ, Shaw CE, Morgan S, Pittman A, Al-Chalabi A. Mehta PR, et al. J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):268-271. doi: 10.1136/jnnp-2018-319089. Epub 2018 Sep 30. J Neurol Neurosurg Psychiatry. 2019. PMID: 30270202 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. 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.
39 results