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Page 1
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serra… See abstract for full author list ➔ Chia R, et al. Among authors: makarious mb. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
ARSA variants in α-synucleinopathies.
Makarious MB, Diez-Fairen M, Krohn L, Blauwendraat C, Bandres-Ciga S, Ding J, Pihlstrøm L, Houlden H, Scholz SW, Gan-Or Z. Makarious MB, et al. Brain. 2019 Dec 1;142(12):e70. doi: 10.1093/brain/awz340. Brain. 2019. PMID: 31670782 Free PMC article. No abstract available.
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: makarious mb. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
Classification of GBA Variants and Their Effects in Synucleinopathies.
Gan-Or Z, Alcalay RN, Makarious MB, Scholz SW, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Gan-Or Z, et al. Among authors: makarious mb. Mov Disord. 2019 Oct;34(10):1581-1582. doi: 10.1002/mds.27803. Mov Disord. 2019. PMID: 31769092 No abstract available.
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.
Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F; International Parkinson's Disease Genomics Consortium (IPDGC); Nalls MA, Singleton AB. Iwaki H, et al. Among authors: makarious mb. Mov Disord. 2020 May;35(5):774-780. doi: 10.1002/mds.27974. Epub 2020 Jan 20. Mov Disord. 2020. PMID: 31958187 Free PMC article.
Comprehensive assessment of PINK1 variants in Parkinson's disease.
Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Krohn L, et al. Among authors: makarious mb. Neurobiol Aging. 2020 Jul;91:168.e1-168.e5. doi: 10.1016/j.neurobiolaging.2020.03.003. Epub 2020 Mar 10. Neurobiol Aging. 2020. PMID: 32249012 Free PMC article.
Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.
Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A, Pihlstrom L, Torkamani A, Soltis AR, Dalgard CL; American Genome Center; Scholz SW, Traynor BJ, Ehrlich D, Scherzer CR, Bookman M, Cookson M, Blauwendraat C, Nalls MA, Singleton AB; International Parkinson Disease Genomics Consortium. Bandres-Ciga S, et al. Among authors: makarious mb. Acta Neuropathol. 2020 Sep;140(3):341-358. doi: 10.1007/s00401-020-02181-3. Epub 2020 Jun 29. Acta Neuropathol. 2020. PMID: 32601912 Free PMC article.
The Parkinson's Disease Genome-Wide Association Study Locus Browser.
Grenn FP, Kim JJ, Makarious MB, Iwaki H, Illarionova A, Brolin K, Kluss JH, Schumacher-Schuh AF, Leonard H, Faghri F, Billingsley K, Krohn L, Hall A, Diez-Fairen M, Periñán MT, Foo JN, Sandor C, Webber C, Fiske BK, Gibbs JR, Nalls MA, Singleton AB, Bandres-Ciga S, Reed X, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Grenn FP, et al. Among authors: makarious mb. Mov Disord. 2020 Nov;35(11):2056-2067. doi: 10.1002/mds.28197. Epub 2020 Aug 31. Mov Disord. 2020. PMID: 32864809 Free PMC article.
Differences in the Presentation and Progression of Parkinson's Disease by Sex.
Iwaki H, Blauwendraat C, Leonard HL, Makarious MB, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Smolensky L, Amondikar N, Hutten SJ, Frasier M, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Gibbs RJ, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada K, Wegel CE, Danjou F, Simon DK, Andreassen OA, Ravina B, Toft M, Heutink P, Bloem BR, Weintraub D, Barker RA, Williams-Gray CH, van de Warrenburg BP, Van Hilten JJ, Scherzer CR, Singleton AB, Nalls MA. Iwaki H, et al. Among authors: makarious mb. Mov Disord. 2021 Jan;36(1):106-117. doi: 10.1002/mds.28312. Epub 2020 Oct 1. Mov Disord. 2021. PMID: 33002231 Free PMC article.
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
Shadrin AA, Mucha S, Ellinghaus D, Makarious MB, Blauwendraat C, Sreelatha AAK, Heras-Garvin A, Ding J, Hammer M, Foubert-Samier A, Meissner WG, Rascol O, Pavy-Le Traon A, Frei O, O'Connell KS, Bahrami S, Schreiber S, Lieb W, Müller-Nurasyid M, Schminke U, Homuth G, Schmidt CO, Nöthen MM, Hoffmann P, Gieger C, Wenning G; European Multiple System Atrophy Study Group; Gibbs JR, Franke A, Hardy J, Stefanova N, Gasser T, Singleton A, Houlden H, Scholz SW, Andreassen OA, Sharma M. Shadrin AA, et al. Among authors: makarious mb. Mov Disord. 2021 Feb;36(2):449-459. doi: 10.1002/mds.28338. Epub 2020 Oct 27. Mov Disord. 2021. PMID: 33107653 Free PMC article.
53 results