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Page 1
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease. Boot E, et al. Among authors: mok ky. Neurology. 2018 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. Epub 2018 May 11. Neurology. 2018. PMID: 29752303 Free PMC article.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: mok ky. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.
Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC); Williams-Gray CH, Barker RA, van Dijk KD, Berendse HW, Heutink P, Corvol JC, Cormier F, Lesage S, Brice A, Brockmann K, Schulte C, Gasser T, Foltynie T, Limousin P, Morrison KE, Clarke CE, Sawcer S, Warner TT, Lees AJ, Morris HR, Nalls MA, Singleton AB, Hardy J, Abramov AY, Plagnol V, Williams NM, Wood NW. Mok KY, et al. Lancet Neurol. 2016 May;15(6):585-96. doi: 10.1016/S1474-4422(16)00071-5. Epub 2016 Mar 24. Lancet Neurol. 2016. PMID: 27017469 Free PMC article.
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium. Lubbe SJ, et al. Among authors: mok ky. Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348. Hum Mol Genet. 2016. PMID: 27798102 Free PMC article.
Analysis of shared heritability in common disorders of the brain.
Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinge… See abstract for full author list ➔ Brainstorm Consortium, et al. Among authors: mok ky. Science. 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757. Science. 2018. PMID: 29930110 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.
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.
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL; American Genome Center; Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-… See abstract for full author list ➔ Bandres-Ciga S, et al. Mov Disord. 2019 Dec;34(12):1851-1863. doi: 10.1002/mds.27864. Epub 2019 Oct 29. Mov Disord. 2019. PMID: 31660654 Free PMC article.
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium. Nalls MA, et al. Lancet Neurol. 2019 Dec;18(12):1091-1102. doi: 10.1016/S1474-4422(19)30320-5. Lancet Neurol. 2019. PMID: 31701892 Free PMC article.
113 results