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01/01/2024
Novel truncating variant reinforces the involvement of ZNF148 in autism spectrum disorder with normal neuroimaging
Hanna, LV, Serra-Juhé, C, Boronat, S, Rodríguez-Santiago, B, Baena, M, Cuscó, I. Novel truncating variant reinforces the involvement of ZNF148 in autism spectrum disorder with normal neuroimaging. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/01/2024
A novel case provides new evidence of the occurrence of hereditary pathogenic variants in the RERE gene
Marsal-Olivan, A, Díaz, A, Vega, L, Baena, M, Boronat, S, Cuscó, I, Surrallés, J, Rodríguez-Santiago, B, Serra-Juhé, C. A novel case provides new evidence of the occurrence of hereditary pathogenic variants in the RERE gene. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
22/08/2023
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients
Esmel-Vilomara R., Valenzuela I., Riaza L., Rodríguez-Santiago B., Rosés-Noguer F., Boronat S., Sabaté-Rotés A.. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9)DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1.600(Q4/8D).
01/01/2023
Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature
Iznardo H., Bernal S., Boronat S., Roé E.. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature. PEDIATRIC NEUROLOGY. 2023; 148DOI:10.1016/j.pediatrneurol.2023.07.022. PMID:37634327. IF:3.200(Q1/2D).
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).