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Year Number of Results
2015 2
2016 15
2017 10
2018 2
2019 3
2020 7
2021 4
2024 1

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39 results

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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
Whole-genome sequencing.
Morris HR, Houlden H, Polke J. Morris HR, et al. Pract Neurol. 2021 May 10;21(4):322-7. doi: 10.1136/practneurol-2020-002561. Online ahead of print. Pract Neurol. 2021. PMID: 33972362 Free PMC article.
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC). Lubbe SJ, et al. Hum Mol Genet. 2021 Mar 25;30(1):78-86. doi: 10.1093/hmg/ddaa273. Hum Mol Genet. 2021. PMID: 33448283 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.
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R, Harrison V, Reid E, Wood N; Genomics England Research Consortium; Vandrovcova J, Houlden H, Tucci A. Bourinaris T, et al. Eur J Hum Genet. 2020 Dec;28(12):1763-1768. doi: 10.1038/s41431-020-00720-w. Epub 2020 Sep 15. Eur J Hum Genet. 2020. PMID: 32934340 Free PMC article.
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, Ben Romdhan S, Benmahdjoub M, Arezki M, Mhiri C, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset DG, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N, Morris HR; International Parkinson Disease Genomics Consortium (IPDGC). Brown EE, et al. Neurobiol Aging. 2021 Jan;97:148.e17-148.e24. doi: 10.1016/j.neurobiolaging.2020.07.002. Epub 2020 Jul 13. Neurobiol Aging. 2021. PMID: 32873436 Free PMC article.
Making neurogenetics a global endeavour.
Morris HR. Morris HR. Brain. 2020 Jul 1;143(7):1970-1973. doi: 10.1093/brain/awaa185. Brain. 2020. PMID: 32671400 No abstract available.
ATP10B and the risk for Parkinson's disease.
Real R, Moore A, Blauwendraat C, Morris HR, Bandres-Ciga S; International Parkinson’s Disease Genomics Consortium (IPDGC). Real R, et al. Acta Neuropathol. 2020 Sep;140(3):401-402. doi: 10.1007/s00401-020-02172-4. Epub 2020 Jun 15. Acta Neuropathol. 2020. PMID: 32556962 Free PMC article. No abstract available.
39 results