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Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T, Shelkovnikova T, Castelli L, Hautbergue GM, Hewitt C, Kirby J, Wharton SB, Mead RJ, Shaw PJ. Cooper-Knock J, et al. Among authors: ansorge o. Brain Pathol. 2023 Jan;33(1):e13104. doi: 10.1111/bpa.13104. Epub 2022 Jul 24. Brain Pathol. 2023. PMID: 35871544 Free PMC article.
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium; Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Majounie E, et al. Among authors: ansorge o. Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9. Lancet Neurol. 2012. PMID: 22406228 Free PMC article.
159 results