Buscar

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).