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545 results

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Page 1
MAPT p.V363I mutation: A rare cause of corticobasal degeneration.
Ahmed S, Fairen MD, Sabir MS, Pastor P, Ding J, Ispierto L, Butala A, Morris CM, Schulte C, Gasser T, Jabbari E, Pletnikova O, Morris HR, Troncoso J, Gelpi E, Pantelyat A, Scholz SW. Ahmed S, et al. Among authors: troncoso j. Neurol Genet. 2019 Jun 25;5(4):e347. doi: 10.1212/NXG.0000000000000347. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31404212 Free PMC article.
Assessment of APOE in atypical parkinsonism syndromes.
Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L, Pantelyat A, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H, Pletnikova O, Troncoso J, Scholz SW. Sabir MS, et al. Among authors: troncoso j. Neurobiol Dis. 2019 Jul;127:142-146. doi: 10.1016/j.nbd.2019.02.016. Epub 2019 Feb 21. Neurobiol Dis. 2019. PMID: 30798004 Free PMC article.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ; 23andMe Research Team; Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. Blauwendraat C, et al. Among authors: troncoso j. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 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.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
Genetic comorbidities in Parkinson's disease.
Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, Hardy J, Martinez M, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC). Nalls MA, et al. Hum Mol Genet. 2014 Feb 1;23(3):831-41. doi: 10.1093/hmg/ddt465. Epub 2013 Sep 20. Hum Mol Genet. 2014. PMID: 24057672 Free PMC article.
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K, Ding J, Nalls MA; International Parkinson’s Disease Genomics Consortium; North American Brain Expression Consortium; Olszewski M, Hauser DN, Kumaran R, Lozano AM, Baekelandt V, Greene LE, Taymans JM, Greggio E, Cookson MR. Beilina A, et al. Proc Natl Acad Sci U S A. 2014 Feb 18;111(7):2626-31. doi: 10.1073/pnas.1318306111. Epub 2014 Feb 7. Proc Natl Acad Sci U S A. 2014. PMID: 24510904 Free PMC article.
545 results