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[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R. Ulate-Campos A, et al. Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Med Clin (Barc). 2014. PMID: 24768197 Spanish.
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].
Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R. Ormazabal A, et al. Med Clin (Barc). 2006 Jun 17;127(3):81-5. doi: 10.1157/13090262. Med Clin (Barc). 2006. PMID: 16827996 Spanish.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R. Batllori M, et al. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
[Dermatomyositis in childhood].
Mateos González ME, López-Laso E, Gómez Reino J, Simón de las Heras R, Mateos Beato F. Mateos González ME, et al. An Esp Pediatr. 2000 May;52(5):424-9. An Esp Pediatr. 2000. PMID: 11003943 Spanish.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group. Fernández-Ramos JA, et al. Among authors: lopez laso e. Parkinsonism Relat Disord. 2022 Jan;94:67-78. doi: 10.1016/j.parkreldis.2021.11.014. Epub 2021 Nov 25. Parkinsonism Relat Disord. 2022. PMID: 34890878 Free article.
Vanishing white matter disease in a spanish population.
Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J. Turón-Viñas E, et al. J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. eCollection 2014. J Cent Nerv Syst Dis. 2014. PMID: 25089094 Free PMC article. Review.
87 results