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Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
Ortega-Moreno L, Giráldez BG, Verdú A, García-Campos O, Sánchez-Martín G, Serratosa JM, Guerrero-López R. Ortega-Moreno L, et al. Among authors: verdu a. Neurologia. 2016 Oct;31(8):523-7. doi: 10.1016/j.nrl.2014.10.017. Epub 2015 Jan 24. Neurologia. 2016. PMID: 25631041 Free article. English, Spanish.
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.
Giráldez BG, Guerrero-López R, Ortega-Moreno L, Verdú A, Carrascosa-Romero MC, García-Campos Ó, García-Muñozguren S, Pardal-Fernández JM, Serratosa JM. Giráldez BG, et al. Among authors: verdu a. Neuromuscul Disord. 2015 Mar;25(3):222-4. doi: 10.1016/j.nmd.2014.11.007. Epub 2014 Nov 22. Neuromuscul Disord. 2015. PMID: 25578555
[Use of benzodiazepines in prolonged seizures and status epilepticus in the community].
Sánchez-Carpintero R, Camino R, Smeyers P, Raspall-Chaure M, Martínez-Bermejo A, Ruiz-Falcó ML, Verdú A, Sanmarti FX, Blanco O, Santos Borbujo J, Picó G, Cebollero MA. Sánchez-Carpintero R, et al. Among authors: verdu a. An Pediatr (Barc). 2014 Dec;81(6):400.e1-6. doi: 10.1016/j.anpedi.2014.03.023. Epub 2014 Nov 4. An Pediatr (Barc). 2014. PMID: 25441206 Free article. Spanish.
[Mannosidosis. Clinical and enzymatic studies in a family].
Pascual-Castroviejo I, Chabas A, de la Cruz M, Verdú A, Roche C. Pascual-Castroviejo I, et al. Among authors: verdu a. Neurologia. 1986 Mar-Apr;1(2):58-62. Neurologia. 1986. PMID: 3079111 Review. Spanish. No abstract available.
58 results