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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.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S, Mencacci NE, Durán R, Barrero FJ, Escamilla-Sevilla F, Morgan S, Hehir J, Vives F, Hardy J, Pittman AM. Bandrés-Ciga S, et al. Neurobiol Aging. 2016 Jan;37:210.e1-210.e5. doi: 10.1016/j.neurobiolaging.2015.09.020. Epub 2015 Oct 8. Neurobiol Aging. 2016. PMID: 26518746
Genome-wide assessment of Parkinson's disease in a Southern Spanish population.
Bandrés-Ciga S, Price TR, Barrero FJ, Escamilla-Sevilla F, Pelegrina J, Arepalli S, Hernández D, Gutiérrez B, Cervilla J, Rivera M, Rivera A, Ding JH, Vives F, Nalls M, Singleton A, Durán R. Bandrés-Ciga S, et al. Neurobiol Aging. 2016 Sep;45:213.e3-213.e9. doi: 10.1016/j.neurobiolaging.2016.06.001. Epub 2016 Jun 11. Neurobiol Aging. 2016. PMID: 27393345 Free PMC article.
Structural genomic variations and Parkinson's disease.
Bandrés-Ciga S, Ruz C, Barrero FJ, Escamilla-Sevilla F, Pelegrina J, Vives F, Duran R. Bandrés-Ciga S, et al. Minerva Med. 2017 Oct;108(5):438-447. doi: 10.23736/S0026-4806.17.05246-6. Epub 2017 May 25. Minerva Med. 2017. PMID: 28541025 Review.
Predicting progression in patients with Parkinson's disease.
Blauwendraat C, Bandrés-Ciga S, Singleton AB. Blauwendraat C, et al. Lancet Neurol. 2017 Nov;16(11):860-862. doi: 10.1016/S1474-4422(17)30331-9. Epub 2017 Sep 25. Lancet Neurol. 2017. PMID: 28958800 Free PMC article. No abstract available.
Genetic risk factors in Parkinson's disease.
Billingsley KJ, Bandres-Ciga S, Saez-Atienzar S, Singleton AB. Billingsley KJ, et al. Cell Tissue Res. 2018 Jul;373(1):9-20. doi: 10.1007/s00441-018-2817-y. Epub 2018 Mar 13. Cell Tissue Res. 2018. PMID: 29536161 Free PMC article. Review.
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.
152 results