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591 results

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Page 1
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. Among authors: gibbs jr. Mov Disord. 2023 Dec;38(12):2249-2257. doi: 10.1002/mds.29610. Epub 2023 Nov 5. Mov Disord. 2023. PMID: 37926948
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: gibbs jr. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z; International Parkinson's Disease Genomics Consortium (IPDGC); Cookson MR, Nalls MA, Singleton AB. Bandres-Ciga S, et al. Among authors: gibbs jr. Mov Disord. 2019 Apr;34(4):460-468. doi: 10.1002/mds.27614. Epub 2019 Jan 24. Mov Disord. 2019. PMID: 30675927 Free PMC article.
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
Reynolds RH, Botía J, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); System Genomics of Parkinson’s Disease (SGPD); Hardy J, Gagliano Taliun SA, Ryten M. Reynolds RH, et al. NPJ Parkinsons Dis. 2019 Apr 17;5:6. doi: 10.1038/s41531-019-0076-6. eCollection 2019. NPJ Parkinsons Dis. 2019. PMID: 31016231 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: gibbs jr. 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 DNA Variant Browser.
Kim JJ, Makarious MB, Bandres-Ciga S, Gibbs JR, Ding J, Hernandez DG, Brooks J, Grenn FP, Iwaki H, Singleton AB, Nalls MA, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Kim JJ, et al. Among authors: gibbs jr. Mov Disord. 2021 May;36(5):1250-1258. doi: 10.1002/mds.28488. Epub 2021 Jan 26. Mov Disord. 2021. PMID: 33497488 Free PMC article.
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris HR, Noyce AJ, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: gibbs jr. Ann Neurol. 2021 Jul;90(1):35-42. doi: 10.1002/ana.26090. Epub 2021 May 24. Ann Neurol. 2021. PMID: 33901317 Free PMC article.
Correction to: 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: gibbs jr. Acta Neuropathol. 2021 Jul;142(1):223-224. doi: 10.1007/s00401-021-02309-z. Acta Neuropathol. 2021. PMID: 33944973 Free PMC article. No abstract available.
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
Bressan E, Reed X, Bansal V, Hutchins E, Cobb MM, Webb MG, Alsop E, Grenn FP, Illarionova A, Savytska N, Violich I, Broeer S, Fernandes N, Sivakumar R, Beilina A, Billingsley KJ, Berghausen J, Pantazis CB, Pitz V, Patel D, Daida K, Meechoovet B, Reiman R, Courtright-Lim A, Logemann A, Antone J, Barch M, Kitchen R, Li Y, Dalgard CL; American Genome Center; Rizzu P, Hernandez DG, Hjelm BE, Nalls M, Gibbs JR, Finkbeiner S, Cookson MR, Van Keuren-Jensen K, Craig DW, Singleton AB, Heutink P, Blauwendraat C. Bressan E, et al. Among authors: gibbs jr. Cell Genom. 2023 Feb 6;3(3):100261. doi: 10.1016/j.xgen.2023.100261. eCollection 2023 Mar 8. Cell Genom. 2023. PMID: 36950378 Free PMC article.
591 results