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Page 1
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Jabbari E, Woodside J, Tan MMX, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, Lees AJ, Warner TT, Hardy J, Revesz T, Höglinger GU, Holton JL, Ryten M, Morris HR. Jabbari E, et al. Among authors: gentleman sm. Ann Neurol. 2018 Oct;84(4):485-496. doi: 10.1002/ana.25308. Epub 2018 Sep 15. Ann Neurol. 2018. PMID: 30066433 Free PMC article.
Tau acts as an independent genetic risk factor in pathologically proven PD.
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Charlesworth G, et al. Among authors: gentleman sm. Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4. Neurobiol Aging. 2012. PMID: 22221882 Free PMC article.
LRRK2 exonic variants and risk of multiple system atrophy.
Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. Heckman MG, et al. Among authors: gentleman sm. Neurology. 2014 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378673 Free PMC article.
LRP10 in α-synucleinopathies.
Pihlstrøm L, Schottlaender L, Chelban V, Houlden H; MSA Exome Consortium. Pihlstrøm L, et al. Lancet Neurol. 2018 Dec;17(12):1033-1034. doi: 10.1016/S1474-4422(18)30407-1. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507385 No abstract available.
Primum non nocere: a call for balance when reporting on CTE.
Stewart W, Allinson K, Al-Sarraj S, Bachmeier C, Barlow K, Belli A, Burns MP, Carson A, Crawford F, Dams-O'Connor K, Diaz-Arrastia R, Dixon CE, Edlow BL, Ferguson S, Fischl B, Folkerth RD, Gentleman S, Giza CC, Grady MS, Helmy A, Herceg M, Holton JL, Howell D, Hutchinson PJ, Iacono D, Iglesias JE, Ikonomovic MD, Johnson VE, Keene CD, Kofler JK, Koliatsos VE, Lee EB, Levin H, Lifshitz J, Ling H, Loane DJ, Love S, Maas AI, Marklund N, Master CL, McElvenny DM, Meaney DF, Menon DK, Montine TJ, Mouzon B, Mufson EJ, Ojo JO, Prins M, Revesz T, Ritchie CW, Smith C, Sylvester R, Tang CY, Trojanowski JQ, Urankar K, Vink R, Wellington C, Wilde EA, Wilson L, Yeates K, Smith DH. Stewart W, et al. Lancet Neurol. 2019 Mar;18(3):231-233. doi: 10.1016/S1474-4422(19)30020-1. Epub 2019 Feb 12. Lancet Neurol. 2019. PMID: 30784550 Free PMC article. No abstract available.
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.
Perez-Rodriguez D, Kalyva M, Leija-Salazar M, Lashley T, Tarabichi M, Chelban V, Gentleman S, Schottlaender L, Franklin H, Vasmatzis G, Houlden H, Schapira AHV, Warner TT, Holton JL, Jaunmuktane Z, Proukakis C. Perez-Rodriguez D, et al. Acta Neuropathol Commun. 2019 Dec 23;7(1):219. doi: 10.1186/s40478-019-0873-5. Acta Neuropathol Commun. 2019. PMID: 31870437 Free PMC article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
166 results