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Page 1
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny A, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M, Sadikovic B. Vos N, et al. Among authors: casas alba d. Epigenomics. 2023 Mar;15(6):351-367. doi: 10.2217/epi-2023-0079. Epub 2023 May 30. Epigenomics. 2023. PMID: 37249002
Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia.
Casas-Alba D, de Sevilla MF, Valero-Rello A, Fortuny C, García-García JJ, Ortez C, Muchart J, Armangué T, Jordan I, Luaces C, Barrabeig I, González-Sanz R, Cabrerizo M, Muñoz-Almagro C, Launes C. Casas-Alba D, et al. Clin Microbiol Infect. 2017 Nov;23(11):874-881. doi: 10.1016/j.cmi.2017.03.016. Epub 2017 Mar 23. Clin Microbiol Infect. 2017. PMID: 28344164 Free article.
Molecular epidemiology of an enterovirus A71 outbreak associated with severe neurological disease, Spain, 2016.
González-Sanz R, Casas-Alba D, Launes C, Muñoz-Almagro C, Ruiz-García MM, Alonso M, González-Abad MJ, Megías G, Rabella N, Del Cuerpo M, Gozalo-Margüello M, González-Praetorius A, Martínez-Sapiña A, Goyanes-Galán MJ, Romero MP, Calvo C, Antón A, Imaz M, Aranzamendi M, Hernández-Rodríguez Á, Moreno-Docón A, Rey-Cao S, Navascués A, Otero A, Cabrerizo M. González-Sanz R, et al. Euro Surveill. 2019 Feb;24(7):1800089. doi: 10.2807/1560-7917.ES.2019.24.7.1800089. Euro Surveill. 2019. PMID: 30782267 Free PMC article.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium. Martínez-Monseny AF, et al. Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22. Ann Neurol. 2019. PMID: 30873657 Clinical Trial.
Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M. Martinez-Monseny AF, et al. Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729156
Genomic and serologic characterization of enterovirus A71 brainstem encephalitis.
Leon KE, Schubert RD, Casas-Alba D, Hawes IA, Ramachandran PS, Ramesh A, Pak JE, Wu W, Cheung CK, Crawford ED, Khan LM, Launes C, Sample HA, Zorn KC, Cabrerizo M, Valero-Rello A, Langelier C, Muñoz-Almagro C, DeRisi JL, Wilson MR. Leon KE, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Mar 5;7(3):e703. doi: 10.1212/NXI.0000000000000703. Print 2020 May. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32139440 Free PMC article.
26 results