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Page 1
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: fernandez v. Eur J Hum Genet. 2025 May 16. doi: 10.1038/s41431-025-01872-3. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40379966
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Pacio Miguez M, Santos-Simarro F, García-Miñaúr S, Velázquez Fragua R, Del Pozo Á, Solís M, Jiménez Rodríguez C, Rufo-Rabadán V, Fernandez VE, Rueda I, Gomez Del Pozo MV, Gallego N, Lapunzina P, Palomares-Bralo M. Pacio Miguez M, et al. Among authors: fernandez ve. Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18. Am J Med Genet A. 2020. PMID: 32808430 No abstract available.
Cerebrospinal 14-3-3 Protein Levels as a Neuroaxonal Biomarker in Aquaporin-4 Antibody-Positive Neuromyelitis Optica Spectrum Disorder.
Villacieros-Álvarez J, Sepulveda M, Valls-Carbó A, Fissolo N, Dinoto A, Fernández V, Vilaseca A, Arrambide G, Gutierrez L, Castillo M, Bollo L, Espejo C, Llufriu S, Blanco Y, Armangue T, Álvarez Bravo G, Quiroga-Varela A, Ramió Torrentà L, Cobo-Calvo A, Tintore M, Lünemann JD, Saiz A, Mariotto S, Montalban X, Comabella M. Villacieros-Álvarez J, et al. Among authors: fernandez v. Neurol Neuroimmunol Neuroinflamm. 2025 Sep;12(5):e200432. doi: 10.1212/NXI.0000000000200432. Epub 2025 Jun 30. Neurol Neuroimmunol Neuroinflamm. 2025. PMID: 40587836 Free PMC article.
Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.
Bradley J, Pottier C, da Fonseca EL, Kurup JT, Western D, Wang C, Neupane A, Ray NR, Jean-Francois M, Ali M, Timsina J, Bergmann K, Budde J, Martin ER, Pericak-Vance MA, Cuccaro M, Naj AC, Kunkle BW; Alzheimer's Disease Genetics Consortium (ADGC), Charles F. and Joanne Knight Alzheimer Disease Research Center (Knight‐ADRC); Schellenberg GD, Fernandez V, Haines J, Morris JC, Holtzman DM, Perrin RJ, Reitz C, Beecham GW, Cruchaga C. Bradley J, et al. Among authors: fernandez v. Alzheimers Dement. 2025 Jun;21(6):e70377. doi: 10.1002/alz.70377. Alzheimers Dement. 2025. PMID: 40556318 Free PMC article.
White Matter Abnormalities and Cognition in Aging and Alzheimer Disease.
Peter C, Sathe A, Shashikumar N, Pechman KR, Workmeister AW, Jackson TB, Huo Y, Mukherjee S, Mez J, Dumitrescu LC, Gifford KA, Bolton CJ, Gaynor LS, Risacher SL, Beason-Held LL, An Y, Arfanakis K, Erus G, Davatzikos C, Tosun-Turgut D, Habes M, Wang D, Toga AW, Thompson PM, Zhang P, Schilling KG, Albert M, Kukull W, Biber SA, Landman BA, Bendlin BB, Johnson SC, Schneider J, Barnes LL, Bennett DA, Jefferson AL, Resnick SM, Saykin AJ, Crane PK, Cuccaro ML, Hohman TJ, Archer DB; Alzheimer’s Disease Sequencing Project Phenotype Harmonization Consortium (ADSP-PHC) Analyst Team; Alzheimer’s Disease Neuroimaging Initiative (ADNI), the Biomarkers of Cognitive Decline Among Normal Adults (BIOCARD) Study Team, and the Alzheimer’s Disease Sequencing Project (ADSP); Zaras D, Yang Y, Durant A, Kanakaraj P, Kim ME, Gao C, Newlin NR, Ramadass K, Khairi NM, Li Z, Yao T, Choi SE, Klinedinst B, Lee ML, Scollard P, Trittschuh EH, Sanders EA. Peter C, et al. JAMA Neurol. 2025 Jun 9:e251601. doi: 10.1001/jamaneurol.2025.1601. Online ahead of print. JAMA Neurol. 2025. PMID: 40513084 Free PMC article.
The white lupin CCR1 receptor-like kinase controls systemic Autoregulation of Cluster Root and Nodule Development.
Marquès L, Divol F, Boultif A, Garcia F, Soriano A, Maurines-Carboneill C, Fernandez V, Verstraeten I, Pidon H, Izquierdo E, Hufnagel B, Péret B. Marquès L, et al. Among authors: fernandez v. Proc Natl Acad Sci U S A. 2025 May 27;122(21):e2418411122. doi: 10.1073/pnas.2418411122. Epub 2025 May 22. Proc Natl Acad Sci U S A. 2025. PMID: 40402250 Free PMC article.
Index microvascular resistance (IMR) in heart transplant patients (IMR-HT study): Study protocol.
Pérez-Guerrero A, Vilchez-Tschischke JP, Bonet LA, Diez Gil JL, Peiró TB, Brugaletta S, Gomez-Lara J, Costello JG, Antuña P, Fernández VA, Cebada FS, García-Cosio MD, Lesmes FH, Granados AL, López-Palop R, Garrido IP, Cardenal Piris RM, Sousa DR, Fuertes Ferre G. Pérez-Guerrero A, et al. Among authors: fernandez va. PLoS One. 2025 May 16;20(5):e0315053. doi: 10.1371/journal.pone.0315053. eCollection 2025. PLoS One. 2025. PMID: 40378366 Free PMC article.
Secular trends in periprosthetic joint infections following primary hip and knee arthroplasties: A 15-year cohort study from the VINCat Program (2008-2022).
López-Contreras J, Duch Llorach P, Roch Villaverde N, Almendral A, López AF, Marimon M, Domínguez-Luzón MA, Martinez-Pastor JC, Ramoneda Salas J, Benito N, Morata L, Zules-Oña R, Limón E, Pujol M; VINCat Orthopedic Surgery Module Team; Appendix 1. Members of VINCat Orthopedic Surgery Module Team participating in the programme:. López-Contreras J, et al. Enferm Infecc Microbiol Clin (Engl Ed). 2025 May;43 Suppl 1:S44-S51. doi: 10.1016/j.eimce.2025.02.015. Enferm Infecc Microbiol Clin (Engl Ed). 2025. PMID: 40316368
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