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300 results

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Page 1
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.
Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study.
Ma Y, Farris CM, Weber S, Schade S, Nguyen H, Pérez-Soriano A, Giraldo DM, Fernández M, Soto M, Cámara A, Painous C, Muñoz E, Valldeoriola F, Martí MJ, Clarimon J, Kallunki P, Ma TC, Alcalay RN, Gomes BF, Blennow K, Zetterberg H, Constantinescu J, Mengel D, Kadam V, Parchi P, Brockmann K, Tropea TF, Siderowf A, Synofzik M, Kang UJ, Compta Y, Svenningsson P, Mollenhauer B, Concha-Marambio L. Ma Y, et al. Among authors: valldeoriola f. Lancet Neurol. 2024 Dec;23(12):1225-1237. doi: 10.1016/S1474-4422(24)00395-8. Lancet Neurol. 2024. PMID: 39577923 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.
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A, Reccia MG, Modugno N, Nutile T, Lombardi A, Di Giovannantonio LG, Pietracupa S, Ruggiero D, Scala S, Gambardella S; International Parkinson’s Disease Genomics Consortium (IPDGC); Iacoviello L, Gianfrancesco F, Acampora D, D'Esposito M, Simeone A, Ciullo M, Esposito T. Gialluisi A, et al. Mol Neurodegener. 2021 Jun 21;16(1):35. doi: 10.1186/s13024-021-00455-2. Mol Neurodegener. 2021. PMID: 34148545 Free PMC article.
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Among authors: valldeoriola f. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW; United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s Disease Genomics Consortium (IPDGC). Kia DA, et al. JAMA Neurol. 2021 Apr 1;78(4):464-472. doi: 10.1001/jamaneurol.2020.5257. JAMA Neurol. 2021. PMID: 33523105 Free PMC article.
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.
García-González P, Rodrigo Lara H, Compta Y, Fernandez M, van der Lee SJ, de Rojas I, Saiz L, Painous C, Camara A, Muñoz E, Marti MJ, Valldeoriola F, Puerta R, Illán-Gala I, Pagonabarraga J, Dols-Icardo O, Kulisevsky J, Fortea J, Lleó A, Olivé C, de Boer SCM, Hulsman M, Pijnenburg YAL, Díaz Belloso R, Muñoz-Delgado L, Buiza Rueda D, Gómez-Garre P, Aldecoa I, Aragonés G, Hernandez Vara J, Mendioroz M, Pérez-Tur J, Visser PJ, den Braber A, Papma JM, Martín Montes Á, Rodriguez-Rodriguez E, Blázquez-Folch J, Miguel A, García-Gutiérrez F, Cano A, Valero S, Marquié M, Capdevila-Bayo M, Rosende-Roca M, Quintela I, Carracedo Á, Tàrraga L, Real LM, Royo JL, Erro ME, Guerrero C, Corte Torres D, Blázquez-Estrada M, San Millán B, Teijeira S, Vilas Rolan D, Hernández I, Sánchez-Soblechero A, de la Casa-Fages B, Serrano López S, Baviera-Muñoz R, Lavín A, Taipa R, Amer G, Martinez-Saez E, Fernández-Matarrubia M, Lage-Martínez C, Álvarez V, Molina-Porcel L, Holstege H, Mir P, Belbin O, Boada M, Fernández V, Bullido MJ, Rábano A, Sánchez-Juan P, Ruiz A. García-González P, et al. Among authors: valldeoriola f. Eur J Hum Genet. 2025 Jul;33(7):960-965. doi: 10.1038/s41431-025-01872-3. Epub 2025 May 16. Eur J Hum Genet. 2025. PMID: 40379966
Transcriptomic differences in MSA clinical variants.
Pérez-Soriano A, Arnal Segura M, Botta-Orfila T, Giraldo D, Fernández M, Compta Y, Fernández-Santiago R, Ezquerra M, Tartaglia GG, Martí MJ; Catalan MSA Registry (CMSAR). Pérez-Soriano A, et al. Sci Rep. 2020 Jun 25;10(1):10310. doi: 10.1038/s41598-020-66221-4. Sci Rep. 2020. PMID: 32587362 Free PMC article.
α-Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients.
de Mena L, Parés G, Garrido A, Pilco-Janeta DF, Fernández M, Pérez J, Tolosa E, Cámara A, Valldeoriola F, Ezquerra M, Martí MJ, Fernández-Santiago R; Barcelona LRRK2 Study Group. de Mena L, et al. Among authors: valldeoriola f. Mov Disord. 2025 Mar;40(3):550-555. doi: 10.1002/mds.30094. Epub 2024 Dec 23. Mov Disord. 2025. PMID: 39711195 Free PMC article.
300 results