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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).