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Page 1
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, J… See abstract for full author list ➔ Bandres-Ciga S, et al. Among authors: botia ja. 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.
Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson's disease.
Senkevich K, Bandres-Ciga S, Cisterna-García A, Yu E, Bustos BI, Krohn L, Lubbe SJ, Botía JA; International Parkinson’s Disease Genomics Consortium (IPDGC); Gan-Or Z. Senkevich K, et al. Among authors: botia ja. medRxiv [Preprint]. 2023 Apr 15:2023.04.14.23288478. doi: 10.1101/2023.04.14.23288478. medRxiv. 2023. PMID: 37292720 Free PMC article. Preprint.
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.
Prognostic Implications of Blood Immune-Cell Composition in Metastatic Castration-Resistant Prostate Cancer.
Perez-Navarro E, Conteduca V, Funes JM, Dominguez JI, Martin-Serrano M, Cremaschi P, Fernandez-Perez MP, Gordoa TA, Font A, Vázquez-Estévez S, González-Del-Alba A, Wetterskog D, Mellado B, Fernandez-Calvo O, Méndez-Vidal MJ, Climent MA, Duran I, Gallardo E, Rodriguez Sanchez A, Santander C, Sáez MI, Puente J, Tudela J, Marinas C, López-Andreo MJ, Castellano D, Attard G, Grande E, Rosino A, Botia JA, Palma-Mendez J, De Giorgi U, Gonzalez-Billalabeitia E. Perez-Navarro E, et al. Among authors: botia ja. Cancers (Basel). 2024 Jul 14;16(14):2535. doi: 10.3390/cancers16142535. Cancers (Basel). 2024. PMID: 39061175 Free PMC article.
Targeted co-expression networks for the study of traits.
Gómez-Pascual A, Rocamora-Pérez G, Ibanez L, Botía JA. Gómez-Pascual A, et al. Among authors: botia ja. Sci Rep. 2024 Jul 19;14(1):16675. doi: 10.1038/s41598-024-67329-7. Sci Rep. 2024. PMID: 39030261 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.
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.
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