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2017 2
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47 results

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Page 1
Large-scale rare variant burden testing in Parkinson's disease.
Makarious MB, Lake J, Pitz V, Ye Fu A, Guidubaldi JL, Solsberg CW, Bandres-Ciga S, Leonard HL, Kim JJ, Billingsley KJ, Grenn FP, Jerez PA, Alvarado CX, Iwaki H, Ta M, Vitale D, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC),; Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Real R, Morris HR, Ding J, Gibbs JR, Singleton AB, Nalls MA, Bhangale T, Blauwendraat C. Makarious MB, et al. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
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, Serrano GE, … See abstract for full author list ➔ Chia R, et al. 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.
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. Mov Disord. 2023 Dec;38(12):2249-2257. doi: 10.1002/mds.29610. Epub 2023 Nov 5. Mov Disord. 2023. PMID: 37926948 Free PMC article.
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators. Tezenas du Montcel S, et al. Neurology. 2023 Apr 25;100(17):e1836-e1848. doi: 10.1212/WNL.0000000000207088. Epub 2023 Feb 16. Neurology. 2023. PMID: 36797067 Free PMC article.
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V, Makarious MB, Bandres-Ciga S, Iwaki H; 23andMe Research Team; Singleton AB, Nalls M, Heilbron K, Blauwendraat C. Pitz V, et al. NPJ Parkinsons Dis. 2024 Jan 8;10(1):11. doi: 10.1038/s41531-023-00608-8. NPJ Parkinsons Dis. 2024. PMID: 38191580 Free PMC article.
Finding useful biomarkers for Parkinson's disease.
Chen-Plotkin AS, Albin R, Alcalay R, Babcock D, Bajaj V, Bowman D, Buko A, Cedarbaum J, Chelsky D, Cookson MR, Dawson TM, Dewey R, Foroud T, Frasier M, German D, Gwinn K, Huang X, Kopil C, Kremer T, Lasch S, Marek K, Marto JA, Merchant K, Mollenhauer B, Naito A, Potashkin J, Reimer A, Rosenthal LS, Saunders-Pullman R, Scherzer CR, Sherer T, Singleton A, Sutherland M, Thiele I, van der Brug M, Van Keuren-Jensen K, Vaillancourt D, Walt D, West A, Zhang J. Chen-Plotkin AS, et al. Sci Transl Med. 2018 Aug 15;10(454):eaam6003. doi: 10.1126/scitranslmed.aam6003. Sci Transl Med. 2018. PMID: 30111645 Free PMC article. Review.
Multi-modality machine learning predicting Parkinson's disease.
Makarious MB, Leonard HL, Vitale D, Iwaki H, Sargent L, Dadu A, Violich I, Hutchins E, Saffo D, Bandres-Ciga S, Kim JJ, Song Y, Maleknia M, Bookman M, Nojopranoto W, Campbell RH, Hashemi SH, Botia JA, Carter JF, Craig DW, Van Keuren-Jensen K, Morris HR, Hardy JA, Blauwendraat C, Singleton AB, Faghri F, Nalls MA. Makarious MB, et al. NPJ Parkinsons Dis. 2022 Apr 1;8(1):35. doi: 10.1038/s41531-022-00288-w. NPJ Parkinsons Dis. 2022. PMID: 35365675 Free PMC article.
47 results