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01/01/2023
Characteristics of enterovirus infection associated neurologic disease associated in a pediatric population in Spain
Castillo F., Turón-Viñas E., Armendariz L., Carbonell E., Rabella N., del Cuerpo M., Moliner E.. Characteristics of enterovirus infection associated neurologic disease associated in a pediatric population in Spain. ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA. 2023; DOI:10.1016/j.eimc.2023.02.002. PMID:. IF:(Q/D).
18/10/2022
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Alias, L, de Heredia, ML, Luna, S, Cliville, N, Gonzalez-Quereda, L, Gallano, P, de Juan, J, Pujol, A, Diez, S, Boronat, S, Orus, C, Lasa, A, Venegas, MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3.700(Q2/4D).
01/07/2025
Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome
Arriola-Infante, JE, Morcillo-Nieto, AO, Zsadanyi, SE, Franquesa-Mullerat, M, Vaqué-Alcázar, L, Rozalem-Aranha, M, Arranz, J, Rodríguez-Baz, I, Maure-Blesa, L, Videla, L, Barroeta, I, Soriano, LD, Benejam, B, Fernández, S, Sanjuan-Hernández, A, Giménez, S, Alcolea, D, Belbin, O, Flotats, A, Camacho, V, Lleó, A, Carmona-Iragui, M, Fortea, J, Bejanin, A. Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome. ANNALS OF NEUROLOGY. 2025; 98(1)DOI:10.1002/ana.27226. PMID:40084922. IF:7.700(Q1/1D).
01/07/2025
Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimers disease
Montoliu-Gaya, L, Bian, SJ, Dammer, EB, Alcolea, D, Sauer, M, Martá-Ariza, M, Ashton, NJ, Belbin, O, Fuchs, J, Watson, CM, Ping, LY, Duong, DM, Nilsson, J, Barroeta, I, Lantero-Rodriguez, J, Videla, L, Benejam, B, Roberts, BR, Blennow, K, Seyfried, NT, Levey, AI, Carmona-Iragui, M, Gobom, J, Lleó, A, Wisniewski, T, Zetterberg, H, Fortea, J, Johnson, ECB. Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimers disease. Nature Communications. 2025; 16(1)DOI:10.1038/s41467-025-61054-z. PMID:40595720. IF:15.700(Q1/1D).
01/07/2025
Medial temporal lobe atrophy in Down syndrome along the Alzheimer's disease continuum
Buehner, BJ, Morcillo-Nieto, AO, Zsadanyi, SE, Aranha, MR, Arriola-Infante, JE, Vaqué-Alcazar, L, Arranz, J, Rodríguez-Baz, I, Blesa, LM, Videla, L, Barroeta, I, Soriano, LD, Benejam, B, Fernández, S, Hernandez, AS, Bargalló, N, González-Ortiz, S, Giménez, S, de Flores, R, Yushkevich, PA, Alcolea, D, Belbin, O, Lleó, A, Carmona-Iragui, M, Fortea, J, Bejanin, A. Medial temporal lobe atrophy in Down syndrome along the Alzheimer's disease continuum. BRAIN. 2025; 148(7)DOI:10.1093/brain/awaf133. PMID:40243675. IF:11.700(Q1/1D).
01/06/2025
DOWN SYNDROME RESULTS IN AN AMPLIFIED INTERFERON RESPONSE TO AMYLOID-ß THAT IS ASSOCIATED WITH PRODROMAL ALZHEIMER'S DISEASE
Mumford, P, Farrell, C, Kammuri, F, Cannavo, C, Banks, G, Yaman, U, Yu, LJL, Stewart, M, Iulita, MF, Wells, S, Salih, D, Belbin, O, Carmona-Iragui, M, Fortea, J, Wiseman, F. DOWN SYNDROME RESULTS IN AN AMPLIFIED INTERFERON RESPONSE TO AMYLOID-ß THAT IS ASSOCIATED WITH PRODROMAL ALZHEIMER'S DISEASE. GLIA. 2025; 73DOI:. PMID:. IF:5.100(Q1/2D).