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Year Number of Results
2004 1
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48 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. Among authors: botia ja. Lancet Neurol. 2019 Dec;18(12):1091-1102. doi: 10.1016/S1474-4422(19)30320-5. Lancet Neurol. 2019. PMID: 31701892 Free PMC article.
Cell-free RNA signatures predict Alzheimer's disease.
Cisterna-García A, Beric A, Ali M, Pardo JA, Chen HH, Fernandez MV, Norton J, Gentsch J, Bergmann K, Budde J, Perlmutter JS, Morris JC, Cruchaga C, Botia JA, Ibanez L. Cisterna-García A, et al. Among authors: botia ja. iScience. 2023 Nov 23;26(12):108534. doi: 10.1016/j.isci.2023.108534. eCollection 2023 Dec 15. iScience. 2023. PMID: 38089583 Free PMC article.
Artificial intelligence for dementia genetics and omics.
Bettencourt C, Skene N, Bandres-Ciga S, Anderson E, Winchester LM, Foote IF, Schwartzentruber J, Botia JA, Nalls M, Singleton A, Schilder BM, Humphrey J, Marzi SJ, Toomey CE, Kleifat AA, Harshfield EL, Garfield V, Sandor C, Keat S, Tamburin S, Frigerio CS, Lourida I; Deep Dementia Phenotyping (DEMON) Network; Ranson JM, Llewellyn DJ. Bettencourt C, et al. Among authors: botia ja. Alzheimers Dement. 2023 Dec;19(12):5905-5921. doi: 10.1002/alz.13427. Epub 2023 Aug 22. Alzheimers Dement. 2023. PMID: 37606627 Free PMC article. Review.
Multi-modality machine learning predicting Parkinson's disease.
Makarious MB, Leonard HL, Vitale D, Iwaki H, Sargent L, Dadu A, Violich I, Hutchins E, Saffo D, Bandres-Ciga S, Kim JJ, Song Y, Maleknia M, Bookman M, Nojopranoto W, Campbell RH, Hashemi SH, Botia JA, Carter JF, Craig DW, Van Keuren-Jensen K, Morris HR, Hardy JA, Blauwendraat C, Singleton AB, Faghri F, Nalls MA. Makarious MB, et al. Among authors: botia ja. NPJ Parkinsons Dis. 2022 Apr 1;8(1):35. doi: 10.1038/s41531-022-00288-w. NPJ Parkinsons Dis. 2022. PMID: 35365675 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: botia ja. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease.
Gómez-Pascual A, Naccache T, Xu J, Hooshmand K, Wretlind A, Gabrielli M, Lombardo MT, Shi L, Buckley NJ, Tijms BM, Vos SJB, Ten Kate M, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleó A, Popp J, Martinez-Lage P, Streffer J, Barkhof F, Zetterberg H, Visser PJ, Lovestone S, Bertram L, Nevado-Holgado AJ, Gualerzi A, Picciolini S, Proitsi P, Verderio C, Botía JA, Legido-Quigley C. Gómez-Pascual A, et al. Among authors: botia ja. Comput Biol Med. 2024 Jun;176:108588. doi: 10.1016/j.compbiomed.2024.108588. Epub 2024 May 13. Comput Biol Med. 2024. PMID: 38761503 Free article.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Among authors: botia ja. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
IntroVerse: a comprehensive database of introns across human tissues.
García-Ruiz S, Gustavsson EK, Zhang D, Reynolds RH, Chen Z, Fairbrother-Browne A, Gil-Martínez AL, Botia JA, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: botia ja. Nucleic Acids Res. 2023 Jan 6;51(D1):D167-D178. doi: 10.1093/nar/gkac1056. Nucleic Acids Res. 2023. PMID: 36399497 Free PMC article.
48 results