Search
01/06/2025
Delphi consensus on referral criteria for pediatric patients with suspected Dravet syndrome
Aledo-Serrano, A, Boronat, S, García-Peñas, JJ, García-Ron, A, Gil-Nagel, A, Uranga, JJR, Sánchez-Carpintero, R, Smeyers, P, Villanueva, V. Delphi consensus on referral criteria for pediatric patients with suspected Dravet syndrome. EPILEPSY & BEHAVIOR. 2025; 167DOI:10.1016/j.yebeh.2025.110401. PMID:40158412. IF:2.300(Q2/4D).
23/05/2025
Risk factors associated with low bone mineral density and childhood osteoporosis in a population undergoing skeletal growth: a cross-sectional analytic study
Magallares, B, Cerdá, D, Betancourt, J, Fraga, G, Park, H, Codes-Méndez, H, Quesada-Masachs, E, López-Corbeto, M, Torrent, M, Marín, A, Herrera, S, Gich, I, Boronat, S, Casademont, J, Corominas, H, Malouf, J. Risk factors associated with low bone mineral density and childhood osteoporosis in a population undergoing skeletal growth: a cross-sectional analytic study. Frontiers in Endocrinology. 2025; 16DOI:10.3389/fendo.2025.1587985. PMID:40487764. IF:4.600(Q1/3D).
09/04/2025
Pediatric densitometry: is the Z score adjustment necessary in all cases?
Magallares, B, Malouf, J, Codes-Méndez, H, Park, HS, Betancourt, J, Fraga, G, Quesada-Masachs, E, López-Corbeto, M, Torrent, M, Marin, A, Herrera, S, Gich, I, Boronat, S, Casademont, J, Corominas, H, Cerdá, D. Pediatric densitometry: is the Z score adjustment necessary in all cases?. Frontiers in Endocrinology. 2025; 16DOI:10.3389/fendo.2025.1587382. PMID:40270717. IF:4.600(Q1/3D).
01/02/2025
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report
Borrell-Pichot, M, Fons, C, Boronat, S, Sierra-Marcos, A. Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report. Epilepsia Open. 2025; 10(1)DOI:10.1002/epi4.13116. PMID:39679854. IF:2.900(Q2/4D).
01/01/2025
Cardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?
Esmel-Vilomara, R, Turón-Viñas, E, Pujol-Sanjuan, M, Giorgi, S, Pérez-Fernández, M, Pérez-Restrepo, A, Aibar, JA, Boronat, S. Cardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?. PEDIATRIC NEUROLOGY. 2025; 164DOI:10.1016/j.pediatrneurol.2025.01.005. PMID:39862709. IF:2.100(Q2/4D).
06/11/2024
Response to amoxicillin and perampanel in infantile Alexander disease
Boronat, S, Turon-Viñas, E, Mac Manus, N, Diaz-Gomez, A, Vicente, M, Ros-Castelló, V, Sierra-Marcos, A. Response to amoxicillin and perampanel in infantile Alexander disease. Epilepsia Open. 2024; 9(6)DOI:10.1002/epi4.13077. PMID:39503736. IF:2.900(Q2/4D).
29/10/2024
BRIVA-ONE study: 12-month outcomes of brivaracetam monotherapy in clinical practice
Villanueva, V, Villar, EG, Fernandez-Cabrera, A, Zurita, J, Lopez-Gonzalez, FJ, Rodríguez-Osorio, X, Parejo-Carbonell, B, Estevez, JC, Mercedes-Alvarez, B, Ojeda, J, Rubio-Roy, M, Garcia-Escrivá, A, Gómez-Ibáñez, A, Martinez-Poles, J, Martinez-Agredano, P, Calle, R, Sierra-Marcos, A, Gonzalez, AM, Herrera, JD, Rodriguez-Uranga, J, Cabezas, B, Martinez, E, Renau, J, de Toledo, M, Hampel, KG, Alarcón, C, Barceló, MI, Monterde, A, Lara, LB, Sansa, G, Serratosa, JM. BRIVA-ONE study: 12-month outcomes of brivaracetam monotherapy in clinical practice. Epilepsia Open. 2024; 9(6)DOI:10.1002/epi4.13078. PMID:39470722. IF:2.900(Q2/4D).
22/10/2024
Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach
Muiño, E, Carcel-Marquez, J, Llucia-Carol, L, Gallego-Fabrega, C, Cullell, N, Lledós, M, Martin-Campos, JM, Villatoro-Gonález, P, Sierra-Marcos, A, Ros-Castelló, V, Aguilera-Simón, A, Marti-Fabregas, J, Fernandez-Cadenas, I. Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach. NEUROLOGY. 2024; 103(8)DOI:10.1212/WNL.0000000000209666. PMID:39298701. IF:8.500(Q1/1D).
01/10/2024
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
Esmel-Vilomara, R, Miguel, LDD, Artigas-Baleri, A, Turón-Viñas, E, Cuscó, I, Díaz-Gómez, A, Panadés-De Oliveira, LPD, Rocamora, R, Boronat, S. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy. European Journal of Medical Genetics. 2024; 71DOI:10.1016/j.ejmg.2024.104965. PMID:39094681. IF:1.700(Q3/8D).
01/10/2024
Generalizability of electroencephalographic interpretation using artificial intelligence: An external validation study
Mansilla, D, Tveit, J, Aurlien, H, Avigdor, T, Ros-Castello, V, Ho, ALY, Abdallah, C, Gotman, J, Beniczky, S, Frauscher, B. Generalizability of electroencephalographic interpretation using artificial intelligence: An external validation study. EPILEPSIA. 2024; 65(10)DOI:10.1111/epi.18082. PMID:39141002. IF:6.600(Q1/1D).
01/10/2024
IMPLEMENTATION OF CYP3 A5 GENOTYPING TO INDIVIDUALISE TACROLIMUS DOSE IN PAEDIATRIC PATIENTS UNDERGOING HAEMATOPOIETIC STEM CELL TRANSPLANTATION
Torija, IL, Mart n, LG, Sanz, PE, Armengol, PR, Chac n, CM, Noguera, SB, Espa ol, MT, Rodriguez, ER, Guerrero, SB, Mart nez, EFD. IMPLEMENTATION OF CYP3 A5 GENOTYPING TO INDIVIDUALISE TACROLIMUS DOSE IN PAEDIATRIC PATIENTS UNDERGOING HAEMATOPOIETIC STEM CELL TRANSPLANTATION. BONE MARROW TRANSPLANTATION. 2024; 59DOI:. PMID:. IF:5.200(Q1/1D).
01/09/2024
Estimating the Glomerular Filtration Rate in the Pediatric Intensive Care Unit: using the Kinetic equation
Devolder, A, Resa, JC, Casals, JT, Fernandez, EC, Martínez, MR, Gomez, FC, Compañó, AP, Sanagustín, SB, Boronat, S, Rodriguez, GMF. Estimating the Glomerular Filtration Rate in the Pediatric Intensive Care Unit: using the Kinetic equation. PEDIATRIC NEPHROLOGY. 2024; 39(1)DOI:. PMID:. IF:2.600(Q1/2D).
01/09/2024
Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE
Turón-Viñas, E, Boronat, S, Gich, I, Alvarez, VG, García-Puig, M, Carreras, MC, Rodriguez-Palmero, A, Felipe-Rucián, A, Aznar-Laín, G, Jiménez-Fàbrega, X, de la Ossa, NP. Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE. STROKE. 2024; 55(9)DOI:10.1161/STROKEAHA.124.046846. PMID:39051112. IF:8.900(Q1/1D).
01/09/2024
A tool for Dravet syndrome-associated neuropsychiatric comorbidities evaluation (DANCE)
Giorgi, S, Auvin, S, Schoonjans, AS, Turón, E, Sánchez-Miranda, I, Gil-Nagel, A, Lagae, L, Aibar, JA. A tool for Dravet syndrome-associated neuropsychiatric comorbidities evaluation (DANCE). EPILEPSY & BEHAVIOR. 2024; 158DOI:10.1016/j.yebeh.2024.109958. PMID:39067307. IF:2.300(Q2/4D).
29/08/2024
Celiac disease diagnosis: transglutaminase, duodenal biopsy and genetic tests correlations
Schesquini-Roriz, KRP, Rodríguez, GMF, Castellanos, JCB, Martinez-Martinez, L, Guerrero, SB, Rodrigo, C, Badell, I. Celiac disease diagnosis: transglutaminase, duodenal biopsy and genetic tests correlations. Frontiers in Pediatrics. 2024; 12DOI:10.3389/fped.2024.1330511. PMID:39268360. IF:2.000(Q2/4D).
19/06/2024
Diagnostic accuracy of serum calprotectin measured by CLIA and EIA in juvenile idiopathic arthritis: a proof-of-concept study
Codes-Méndez, H, Magallares-López, B, Park, HS, Mariscal, A, Juárez, C, Boronat, S, Martínez-Martínez, L, Corominas, H. Diagnostic accuracy of serum calprotectin measured by CLIA and EIA in juvenile idiopathic arthritis: a proof-of-concept study. Frontiers in Pediatrics. 2024; 12DOI:10.3389/fped.2024.1422916. PMID:38962573. IF:2.000(Q2/4D).
01/06/2024
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases
Cavestro, C, Morra, F, Legati, A, D'Amato, M, Nasca, A, Iuso, A, Lubarr, N, Morrison, JL, Wheeler, PG, Serra-Juhé, C, Rodríguez-Santiago, B, Turón-Viñas, E, Prouteau, C, Barth, M, Hayflick, SJ, Ghezzi, D, Tiranti, V, Di Meo, I. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. Annals of Clinical and Translational Neurology. 2024; 11(6)DOI:10.1002/acn3.52079. PMID:38750253. IF:3.900(Q1/3D).
01/06/2024
Esophageal desquamation in pediatrics. Esophagitis dissecans superficialis
Surinyac-Ayats, B, Font, SS, Betancourt, J, Szafranska, J, Boronat, S. Esophageal desquamation in pediatrics. Esophagitis dissecans superficialis. ANALES DE PEDIATRIA. 2024; 100(6)DOI:10.1016/j.anpedi.2024.02.013. PMID:38763790. IF:2.100(Q2/4D).
01/04/2024
Clonic masseter movements as presentation of focal motor status epilepticus
Lambea-Gil, A, Fernández-Vidal, JM, Barguilla, A, Sierra-Marcos, A, Martí-Fàbregas, J. Clonic masseter movements as presentation of focal motor status epilepticus. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. 2024; 117DOI:10.1016/j.seizure.2024.02.018. PMID:38422596. IF:2.800(Q2/5D).
01/02/2024
Seizures in children undergoing stem cell transplantation
Turón-Viñas E, López-Torija I, Coca-Fernández E, Badell I, Sierra-Marcos A, Turón M, Ribosa R, Boronat S. Seizures in children undergoing stem cell transplantation. PEDIATRIC TRANSPLANTATION. 2024; 28(1)DOI:10.1111/petr.14619. PMID:37803946. IF:1.400(Q3/6D).
01/02/2024
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study
Perry, MS, Scheffer, IE, Sullivan, J, Brunklaus, A, Boronat, S, Wheless, JW, Laux, L, Patel, AD, Roberts, CM, Dlugos, D, Holder, D, Knupp, KG, Lallas, M, Phillips, S, Segal, E, Smeyers, P, Lal, D, Wirrell, E, Zuberi, S, Brünger, T, Wojnaroski, M, Maru, B, O'Donnell, P, Morton, M, James, E, Vila, MC, Huang, NR, Gofshteyn, JS, Rico, S. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study. EPILEPSIA. 2024; 65(2)DOI:10.1111/epi.17850. PMID:38049202. IF:6.600(Q1/1D).
29/01/2024
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Awamleh, Z, Choufani, S, Wu, W, Rots, D, Dingemans, AJM, Khadri, NN, Boronat, S, Ibañez-Mico, S, Herraiz, LC, Ferrer, I, Carrascal, AM, Pérez-Jurado, LA, Lain, GA, Ortigoza-Escobar, JD, de Vries, BBA, Koolen, DA, Weksberg, R. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32(3)DOI:10.1038/s41431-024-01538-6. PMID:38282074. IF:4.600(Q1/2D).
01/01/2024
Relevance of enteroviruses in neonatal meningitis.
Moliner-Calderón E, Rabella-Garcia N, Turón-Viñas E, Ginovart-Galiana G, Figueras-Aloy J. Relevance of enteroviruses in neonatal meningitis.. Enfermedades Infecciosas Y Microbiologia Clinica (english Ed.). 2024; 42(1)DOI:10.1016/j.eimce.2022.12.012. PMID:36624031. IF:(Q/D).
01/01/2024
Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers
Sierra-Marcos, A, Ribosa-Nogué, R, Vidal-Robau, N, Aldecoa, I, Turón, E, Rodríguez-Santiago, B, Turón, M, Boronat, S, Molina-Porcel, L. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers. EPILEPSY RESEARCH. 2024; 199DOI:10.1016/j.eplepsyres.2023.107266. PMID:38061235. IF:2.000(Q3/7D).
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).
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).
24/02/2025
Evaluation of cerebrospinal fluid levels of VAMP-2 and SNAP-25 in a dementia with Lewy bodies clinical cohort stratified by Alzheimer's pathophysiological biomarkers
González, AC, Goossens, J, Campuzano, EV, Sala, I, Sánchez-Saudinós, MB, Rodríguez-Baz, I, Lidón, L, Perlaza, D, Bejanin, A, Haapasalo, A, Fortea, J, Alcolea, D, Lleo, A, Vanmechelen, E, Belbin, O. Evaluation of cerebrospinal fluid levels of VAMP-2 and SNAP-25 in a dementia with Lewy bodies clinical cohort stratified by Alzheimer's pathophysiological biomarkers. Alzheimers Research & Therapy. 2025; 17(1)DOI:10.1186/s13195-025-01685-y. PMID:39994784. IF:7.600(Q1/1D).
27/08/2024
Associations of Microbleeds and Their Topography With Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals With Down Syndrome
Zsadanyi, SE, Morcillo-Nieto, AO, Aranha, MR, Aragón, I, Arriola-Infante, JE, Vaqué-Alcázar, L, Montal, V, Pegueroles, J, Arranz, J, Rodríguez-Baz, I, Blesa, LM, Videla, L, Barroeta, I, Soriano, LD, Benejam, B, Fernández, S, Hernandez, AS, Bargallo, N, González-Ortiz, S, Giménez, S, Alcolea, D, Belbin, O, Lleó, A, Fortea, J, Carmona-Iragui, M, Bejanin, A. Associations of Microbleeds and Their Topography With Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals With Down Syndrome. NEUROLOGY. 2024; 103(4)DOI:10.1212/WNL.0000000000209676. PMID:39074338. IF:8.500(Q1/1D).
18/07/2024
Reply to: Challenges to identifying risk versus protective factors in Alzheimer's disease
Fortea, J, Vaque-Alcazar, L, Pegueroles, J, Alcolea, D, Belbin, O, Dols-Icardo, O, Videla, L, Gispert, JD, Suarez-Calvet, M, Johnson, SC, Sperling, R, Bejanin, A, Lleo, A, Montal, V. Reply to: Challenges to identifying risk versus protective factors in Alzheimer's disease. NATURE MEDICINE. 2024; 30(11)DOI:10.1038/s41591-024-03159-4. PMID:39025967. IF:50.000(Q1/1D).
29/06/2024
APP dyshomeostasis in the pathogenesis of Alzheimer's disease: implications for current drug targets
Sirisi, S, Sánchez-Aced, E, Belbin, O, Lleó, A. APP dyshomeostasis in the pathogenesis of Alzheimer's disease: implications for current drug targets. Alzheimers Research & Therapy. 2024; 16(1)DOI:10.1186/s13195-024-01504-w. PMID:38951839. IF:7.600(Q1/1D).
01/06/2024
miR-519a-3p, found to regulate cellular prion protein during Alzheimer 's disease pathogenesis, as a biomarker of asymptomatic stages
Jácome, D, Cotrufo, T, Andrés-Benito, P, Lidón, L, Martí, E, Ferrer, I, del Río, JA, Gavín, R. miR-519a-3p, found to regulate cellular prion protein during Alzheimer 's disease pathogenesis, as a biomarker of asymptomatic stages. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2024; 1870(5)DOI:10.1016/j.bbadis.2024.167187. PMID:38653354. IF:4.200(Q1/2D).
06/05/2024
APOE4 homozygozity represents a distinct genetic form of Alzheimer's disease
Fortea, J, Pegueroles, J, Alcolea, D, Belbin, O, Dols-Icardo, O, Vaqué-Alcázar, L, Videla, L, Gispert, JD, Suárez-Calvet, M, Johnson, SC, Sperling, R, Bejanin, A, Lleó, A, Montal, V. APOE4 homozygozity represents a distinct genetic form of Alzheimer's disease. NATURE MEDICINE. 2024; DOI:10.1038/s41591-024-02931-w. PMID:38710950. IF:50.000(Q1/1D).