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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
Wray S, Self M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium; Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J. Wray S, et al. Among authors: nilsson c. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium; Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. Broce I, et al. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. PLoS Med. 2018. PMID: 29315334 Free PMC article.
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Lindquist SG, Nielsen JE, Wszolek ZK, Farrer M, Widner H, van Westen D, Hägerström D, Markopoulou K, Chase BA, Nilsson K, Reimer J, Nilsson C. Puschmann A, et al. Among authors: nilsson k, nilsson c. Parkinsonism Relat Disord. 2009 Nov;15(9):627-32. doi: 10.1016/j.parkreldis.2009.06.007. Epub 2009 Jul 25. Parkinsonism Relat Disord. 2009. PMID: 19632874 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. Among authors: nilsson cf. 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.
Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.
Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A. Ygland E, et al. Among authors: nilsson k, nilsson c. Alzheimers Res Ther. 2018 Jan 9;10(1):2. doi: 10.1186/s13195-017-0330-2. Alzheimers Res Ther. 2018. PMID: 29370822 Free PMC article.
Will FTLD-tau work for all when FTDP-17 retires?
Ygland E, Landqvist Waldö M, Englund E, Puschmann A, Nilsson C. Ygland E, et al. Among authors: nilsson c. Brain. 2018 Aug 1;141(8):e62. doi: 10.1093/brain/awy178. Brain. 2018. PMID: 29947741 No abstract available.
First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.
Puschmann A, Englund E, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Törnqvist AL, Rehncrona S, Widner H, Wszolek ZK, Farrer MJ, Nilsson C. Puschmann A, et al. Among authors: nilsson c. Parkinsonism Relat Disord. 2012 May;18(4):332-8. doi: 10.1016/j.parkreldis.2011.11.019. Epub 2011 Dec 6. Parkinsonism Relat Disord. 2012. PMID: 22154298 Free PMC article.
Genomic investigation of alpha-synuclein multiplication and parkinsonism.
Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ. Ross OA, et al. Among authors: nilsson c. Ann Neurol. 2008 Jun;63(6):743-50. doi: 10.1002/ana.21380. Ann Neurol. 2008. PMID: 18571778 Free PMC article.
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Bonham LW, Steele NZR, Karch CM, Broce I, Geier EG, Wen NL, Momeni P, Hardy J, Miller ZA, Gorno-Tempini ML, Hess CP, Lewis P, Miller BL, Seeley WW, Manzoni C, Desikan RS, Baranzini SE, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC). Bonham LW, et al. Sci Rep. 2019 Jul 26;9(1):10854. doi: 10.1038/s41598-019-46415-1. Sci Rep. 2019. PMID: 31350420 Free PMC article.
1,074 results