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01/07/2024 Surgical Approach to Retroperitoneal Sarcomas with Involvement of the Permeable Inferior Vena Cava: Use of the Femorojugular Bypass

Cambeiro Cabre, L, Homs Samso, R, Rosello Diez, E, Solans Solerdelcoll, M, Gine Serven, M, Lorenzo Vaquerizo, L, Sanchez Cabus, S, Moral Duarte, A, Gonzalez Lopez, JA. Surgical Approach to Retroperitoneal Sarcomas with Involvement of the Permeable Inferior Vena Cava: Use of the Femorojugular Bypass. Journal Of Biomedical Research & Environmental Sciences. 2024; 5(7)DOI:10.37871/jbres1951. PMID:. IF:(Q/D).

01/05/2024 Amiodarone triggered Kounis syndrome complicated by refractory cardiac arrest rescued with VA-ECMO

Soriano, M, Sionis, A, Rodríguez, E, Bonet, A, Soto, L, Tauron, M, Belmar, D, Arakama, S, Mayol, J, Rodríguez, L. Amiodarone triggered Kounis syndrome complicated by refractory cardiac arrest rescued with VA-ECMO. Clinical Case Reports. 2024; 12(5)DOI:10.1002/ccr3.8712. PMID:38765612. IF:(Q/D).

01/04/2024 Illuminating the Shadows: Multidetector Computed Tomography as a Guiding Light in a Challenging Case of Myocardial Recovery Under LVAD Support

Benedicto, AM, Tauron, M, Viladés, D, Rodriguez, L, López, LL, Doñate, M, Koller, T, Moliner, C, Simon, C, De Antonio, M, Pomares, A, Loidi, VB, Mesado, N, Aran, J, Villalobos, A, Gil, FR, Ginel, A, Perez, SM. Illuminating the Shadows: Multidetector Computed Tomography as a Guiding Light in a Challenging Case of Myocardial Recovery Under LVAD Support. JOURNAL OF HEART AND LUNG TRANSPLANTATION. 2024; 43(4)DOI:. PMID:. IF:6.000(Q1/1D).

12/12/2023 Case Report: Kommerell's diverticulum and left aberrant subclavian artery stenosis hybrid treatment with branched aortic stent-graft

Rodríguez-Pérez, A, Tello-Diaz, C, Vergara-Budding, AC, Fernández-Vinzenzi, C, Moustafa, AH, Pinilla, CA, Ginel-Iglesias, A, Barros-Membrilla, AJ, Dilme-Muñoz, JF. Case Report: Kommerell's diverticulum and left aberrant subclavian artery stenosis hybrid treatment with branched aortic stent-graft. Frontiers in Cardiovascular Medicine. 2023; 10DOI:10.3389/fcvm.2023.1309839. PMID:38155991. IF:2.800(Q2/4D).

01/03/2023 Expression and Impact of Adenosine A(3) Receptors on Calcium Homeostasis in Human Right Atrium

Tarifa, C, Jimenez-Sabado, V, Franco, R, Montiel, J, Guerra, J, Ciruela, F, Hove-Madsen, L. Expression and Impact of Adenosine A(3) Receptors on Calcium Homeostasis in Human Right Atrium. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023; 24(5)DOI:10.3390/ijms24054404. PMID:36901835. IF:4.900(Q1/3D).

01/02/2023 Increased Density of Endogenous Adenosine A(2A) Receptors in Atrial Fibrillation: From Cellular and Porcine Models to Human Patients

Godoy-Marin, H, Jimenez-Sabado, V, Tarifa, C, Ginel, A, Dos Santos, JL, Bentzen, BH, Hove-Madsen, L, Ciruela, F. Increased Density of Endogenous Adenosine A(2A) Receptors in Atrial Fibrillation: From Cellular and Porcine Models to Human Patients. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023; 24(4)DOI:10.3390/ijms24043668. PMID:36835078. IF:4.900(Q1/3D).

01/01/2023 Spatial Distribution of Calcium Sparks Determines Their Ability to Induce Afterdepolarizations in Human Atrial Myocytes

Tarifa C., Vallmitjana A., Jiménez-Sábado V., Marchena M., Llach A., Herraiz-Martínez A., Godoy-Marín H., Nolla-Colomer C., Ginel A., Viñolas X., Montiel J., Ciruela F., Echebarria B., Benítez R., Cinca J., Hove-Madsen L.. Spatial Distribution of Calcium Sparks Determines Their Ability to Induce Afterdepolarizations in Human Atrial Myocytes. Jacc-Basic To Translational Science. 2023; 8(1)DOI:10.1016/j.jacbts.2022.07.013. PMID:36777175. IF:8.400(Q1/1D).

01/01/2023 Isolated congenital mitral leaflet perforation in a young adult: A case report

Corominas L., Tauron M., Molina M., Tabilo J.F., Leta R., Ginel A.. Isolated congenital mitral leaflet perforation in a young adult: A case report. Cirugia Cardiovascular. 2023; 30(1)DOI:10.1016/j.circv.2022.06.010. PMID:. IF:(Q/D).

01/01/2023 A prospective, international, bicentric study to evaluate PremiCron suture material for cardiac valve surgery - PREMIVALVE a cohort study

Rufa M., Ursulescu A., Baumann P., Ferrer M.T.. A prospective, international, bicentric study to evaluate PremiCron suture material for cardiac valve surgery - PREMIVALVE a cohort study. Annals Of Medicine And Surgery. 2023; 85(4)DOI:10.1097/MS9.0000000000000442. PMID:37113912. IF:(Q/D).

01/01/2023 Impacto del tratamiento con rolipram sobre la homeostasis rédox y la señalización celular en un modelo experimental de aneurisma de aorta abdominal

Puertas-Umbert L., Alonso J., Roselló-Díez E., Santamaría-Orleans A., Martínez-González J., Rodríguez C.. Impacto del tratamiento con rolipram sobre la homeostasis rédox y la señalización celular en un modelo experimental de aneurisma de aorta abdominal. Clinica E Investigacion En Arteriosclerosis. 2023; 36(3)DOI:10.1016/j.arteri.2023.11.004. PMID:38061958. IF:(Q/D).

01/11/2022 CD69 expression on regulatory T cells protects from immune damage after myocardial infarction

Blanco-Dominguez, R, de la Fuente, H, Rodriguez, C, Martin-Aguado, L, Sanchez-Diaz, R, Jimenez-Alejandre, R, Rodriguez-Arabaolaza, I, Curtabbi, A, Garcia-Guimaraes, MM, Vera, A, Rivero, F, Cuesta, J, Jimenez-Borreguero, LJ, Cecconi, A, Duran-Cambra, A, Tauron, M, Alonso, J, Bueno, H, Villalba-Orero, M, Enriquez, JA, Robson, SC, Alfonso, F, Sanchez-Madrid, F, Martinez-Gonzalez, J, Martin, P. CD69 expression on regulatory T cells protects from immune damage after myocardial infarction. JOURNAL OF CLINICAL INVESTIGATION. 2022; 132(21)DOI:10.1172/JCI152418. PMID:36066993. IF:15.900(Q1/1D).

01/07/2022 Impact of R-Carvedilol on beta 2-Adrenergic Receptor-Mediated Spontaneous Calcium Release in Human Atrial Myocytes

Casabella-Ramon, S, Jimenez-Sabado, V, Tarifa, C, Casellas, S, Lu, TT, Izquierdo-Castro, P, Gich, I, Jimenez, M, Ginel, A, Guerra, JM, Chen, SRW, Benitez, R, Hove-Madsen, L. Impact of R-Carvedilol on beta 2-Adrenergic Receptor-Mediated Spontaneous Calcium Release in Human Atrial Myocytes. Biomedicines. 2022; 10(7)DOI:10.3390/biomedicines10071759. PMID:35885069. IF:4.700(Q1/3D).

01/07/2022 Nuclear receptor NOR-1 (Neuron-derived Orphan Receptor-1) in pathological vascular remodelling and vascular remodelling

Ballester-Servera, C, Canes, L, Alonso, J, Puertas, L, Tauron, M, Rodriguez, C, Martinez-Gonzalez, J. Nuclear receptor NOR-1 (Neuron-derived Orphan Receptor-1) in pathological vascular remodelling and vascular remodelling. Clinica E Investigacion En Arteriosclerosis. 2022; 34(4)DOI:10.1016/j.arteri.2022.03.002. PMID:35581107. IF:(Q/D).

01/06/2022 Early clinical outcomes after transaxillary versus transfemoral TAVI. Data from the Spanish TAVI registry

Jimenez-Quevedo, P, Nombela-Franco, L, Munoz-Garcia, E, del Valle-Fernandez, R, Trillo, R, Hernandez, JMD, Salido, L, Elizaga, J, Ojeda, S, Gila, JS, del Blanco, BG, Berenguer, A, Lasa-Larraya, G, Carrillo, CU, Albarran, A, Ruiz-Salmeron, R, Moreu, J, Gheorghe, L, Arzamendi, D, Yanes-Bowden, G, Diaz, J, Perez-Moreiras, I, Artaiz, M, Vaquerizo, B, Cruz-Gonzalez, I, Ruiz-Quevedo, V, Blanco-Mata, R, Baz, JA, Villa, M, de Salazar, AO, Tascon-Quevedo, V, Casellas, S, Moreno, R. Early clinical outcomes after transaxillary versus transfemoral TAVI. Data from the Spanish TAVI registry. REVISTA ESPANOLA DE CARDIOLOGIA. 2022; 75(6)DOI:10.1016/j.rec.2021.07.019. PMID:34711513. IF:5.900(Q1/3D).

01/04/2022 beta 2-adrenergic stimulation potentiates spontaneous calcium release by increasing signal mass and co-activation of ryanodine receptor clusters

Nolla-Colomer, C, Casabella-Ramon, S, Jimenez-Sabado, V, Vallmitjana, A, Tarifa, C, Herraiz-Martinez, A, Llach, A, Tauron, M, Montiel, J, Cinca, J, Chen, SRW, Benitez, R, Hove-Madsen, L. beta 2-adrenergic stimulation potentiates spontaneous calcium release by increasing signal mass and co-activation of ryanodine receptor clusters. Acta Physiologica. 2022; 234(4)DOI:10.1111/apha.13736. PMID:34709723. IF:6.300(Q1/1D).

01/04/2022 Extracorporeal membrane oxigenation in COVID-19 patients: Results of the ECMO-COVID Registry of the Spanish Society of Cardiovascular and Endovascular Surgery

Castano, M, Sbraga, F, de la Sota, EP, Arribas, JM, Camara, ML, Voces, R, Donado, A, Sandoval, E, Morales, CA, Gonzalez-Santos, JM, Barquero-Aleman, M, Fletcher-San Feliu, D, Rodriguez-Roda, J, Molina, D, Bellido, A, Vigil-Escalera, C, Tena, MA, Reyes, G, Gomez, F, Rivas, J, Guevara, A, Tauron, M, Borrego, JM, Castillo, L, Miralles, A, Canovas, S, Berastegui, E, Aramendi, JI, Aldamiz, G, Pruna, R, Silva, J, de Ibarra, JIS, Legarra, JJ, Ballester, C, Rodriguez-Lecoq, R, Daroca, T, Paredes, F. Extracorporeal membrane oxigenation in COVID-19 patients: Results of the ECMO-COVID Registry of the Spanish Society of Cardiovascular and Endovascular Surgery. Cirugia Cardiovascular. 2022; 29(2)DOI:10.1016/j.circv.2022.01.007. PMID:. IF:(Q/D).

16/03/2022 Influence of sex on intracellular calcium homoeostasis in patients with atrial fibrillation

Herraiz-Martinez, A, Tarifa, C, Jimenez-Sabado, V, Llach, A, Godoy-Marin, H, Colino, H, Nolla-Colomer, C, Casabella, S, Izquierdo-Castro, P, Benitez, I, Benitez, R, Rosello-Diez, E, Rodriguez-Font, E, Vinolas, X, Ciruela, F, Cinca, J, Hove-Madsen, L. Influence of sex on intracellular calcium homoeostasis in patients with atrial fibrillation. CARDIOVASCULAR RESEARCH. 2022; 118(4)DOI:10.1093/cvr/cvab127. PMID:33788918. IF:10.800(Q1/1D).

01/01/2022 Identification of atrial-enriched lncRNA Walras linked to cardiomyocyte cytoarchitecture and atrial fibrillation

Garcia-Padilla, C, Dominguez, JN, Lodde, V, Munk, R, Abdelmohsen, K, Gorospe, M, Jimenez-Sabado, V, Ginel, A, Hove-Madsen, L, Aranega, AE, Franco, D. Identification of atrial-enriched lncRNA Walras linked to cardiomyocyte cytoarchitecture and atrial fibrillation. FASEB JOURNAL. 2022; 36(1)DOI:10.1096/fj.202100844RR. PMID:34861058. IF:4.800(Q1/2D).

01/12/2025 Electroencephalographic manifestations of intracranial hypertension in a patient with ventriculoperitoneal shunt malfunction

Bernardi, E, Ros-Castello, V, Coronel-Coronel, M, Lazzari, R, Aibar-Durán, JA, Sierra-Marcos, A. Electroencephalographic manifestations of intracranial hypertension in a patient with ventriculoperitoneal shunt malfunction. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. 2025; 133DOI:10.1016/j.seizure.2025.10.017. PMID:41175508. IF:2.800(Q2/5D).

01/06/2025 Measurable Residual Disease in UBTF-TD Adult Acute Myeloid Leukemia

Castellet, H, Ramil, G, Carricondo, M, Oñate, G, Garrido, A, Artigas, A, Pratcorona, M, Salamero, O, Cortés-Bullich, A, Vives, S, Tormo, M, Mascaró, M, Gallardo, D, Tutusaus, JMM, Garcia, A, Sierra, J, Esteve, J, Nomdedéu, J. Measurable Residual Disease in UBTF-TD Adult Acute Myeloid Leukemia. EUROPEAN JOURNAL OF HAEMATOLOGY. 2025; 114(6)DOI:10.1111/ejh.14402. PMID:39988452. IF:2.300(Q2/5D).

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).