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Page 1
Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.
Rollinson S, Bennion Callister J, Young K, Ryan SJ, Druyeh R, Rohrer JD, Snowden J, Richardson A, Jones M, Harris J, Davidson Y, Robinson A, Ealing J, Johnson JO, Traynor B, Mead S, Mann D, Pickering-Brown SM. Rollinson S, et al. Among authors: ealing j. Neurobiol Aging. 2015 Mar;36(3):1601.e1-5. doi: 10.1016/j.neurobiolaging.2014.12.009. Epub 2014 Dec 12. Neurobiol Aging. 2015. PMID: 25595499 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. 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.
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Davidson Y, Robinson AC, Liu X, Wu D, Troakes C, Rollinson S, Masuda-Suzukake M, Suzuki G, Nonaka T, Shi J, Tian J, Hamdalla H, Ealing J, Richardson A, Jones M, Pickering-Brown S, Snowden JS, Hasegawa M, Mann DM. Davidson Y, et al. Among authors: ealing j. Neuropathol Appl Neurobiol. 2016 Apr;42(3):242-54. doi: 10.1111/nan.12292. Epub 2015 Dec 7. Neuropathol Appl Neurobiol. 2016. PMID: 26538301 Free PMC article.
Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy.
Behrouzi R, Liu X, Wu D, Robinson AC, Tanaguchi-Watanabe S, Rollinson S, Shi J, Tian J, Hamdalla HH, Ealing J, Richardson A, Jones M, Pickering-Brown S, Davidson YS, Strong MJ, Hasegawa M, Snowden JS, Mann DM. Behrouzi R, et al. Among authors: ealing j. Acta Neuropathol Commun. 2016 Mar 31;4:33. doi: 10.1186/s40478-016-0301-z. Acta Neuropathol Commun. 2016. PMID: 27036121 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: ealing j. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in frontotemporal dementia.
Saxon JA, Thompson JC, Harris JM, Ealing J, Hamdalla H, Chaouch A, Young C, Blackburn D, Majeed T, Gall C, Richardson AMT, Langheinrich T, Jones M, Snowden JS. Saxon JA, et al. Among authors: ealing j. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(7-8):606-613. doi: 10.1080/21678421.2020.1797090. Epub 2020 Aug 19. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32811199 Free article.
Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis.
Saxon JA, Thompson JC, Harris JM, Richardson AM, Langheinrich T, Rollinson S, Pickering-Brown S, Chaouch A, Ealing J, Hamdalla H, Young CA, Blackburn D, Majeed T, Gall C, Jones M, Snowden JS. Saxon JA, et al. Among authors: ealing j. J Neurol Neurosurg Psychiatry. 2020 Dec;91(12):1304-1311. doi: 10.1136/jnnp-2020-323969. Epub 2020 Oct 14. J Neurol Neurosurg Psychiatry. 2020. PMID: 33055142 Free PMC article.
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network; Huson SM. Evans DG, et al. Among authors: ealing j. EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13. EBioMedicine. 2016. PMID: 27322474 Free PMC article.
68 results