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Page 1
Application of Aligned-UMAP to longitudinal biomedical studies.
Dadu A, Satone VK, Kaur R, Koretsky MJ, Iwaki H, Qi YA, Ramos DM, Avants B, Hesterman J, Gunn R, Cookson MR, Ward ME, Singleton AB, Campbell RH, Nalls MA, Faghri F. Dadu A, et al. Among authors: faghri f. Patterns (N Y). 2023 May 8;4(6):100741. doi: 10.1016/j.patter.2023.100741. eCollection 2023 Jun 9. Patterns (N Y). 2023. PMID: 37409055 Free PMC article.
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW. Blauwendraat C, et al. Among authors: faghri f. Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17. Neurobiol Aging. 2017. PMID: 28602509 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: faghri f. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
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. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
LRP10 in α-synucleinopathies.
Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. Kia DA, et al. Lancet Neurol. 2018 Dec;17(12):1032. doi: 10.1016/S1474-4422(18)30401-0. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507383 No abstract available.
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C, Pletnikova O, Geiger JT, Murphy NA, Abramzon Y, Rudow G, Mamais A, Sabir MS, Crain B, Ahmed S, Rosenthal LS, Bakker CC, Faghri F, Chia R, Ding J, Dawson TM, Pantelyat A, Albert MS, Nalls MA, Resnick SM, Ferrucci L, Cookson MR, Hillis AE, Troncoso JC, Scholz SW. Blauwendraat C, et al. Among authors: faghri f. Neurobiol Aging. 2019 Apr;76:214.e1-214.e9. doi: 10.1016/j.neurobiolaging.2018.11.007. Epub 2018 Nov 17. Neurobiol Aging. 2019. PMID: 30528841 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. 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.
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G; ITALSGEN Consortium; International ALS Genomics Consortium; Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ. Bandres-Ciga S, et al. Ann Neurol. 2019 Apr;85(4):470-481. doi: 10.1002/ana.25431. Epub 2019 Mar 13. Ann Neurol. 2019. PMID: 30723964 Free PMC article.
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC); Ryten M, Koks S. Billingsley KJ, et al. NPJ Parkinsons Dis. 2019 May 22;5:8. doi: 10.1038/s41531-019-0080-x. eCollection 2019. NPJ Parkinsons Dis. 2019. PMID: 31123700 Free PMC article.
64 results