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Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).
López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal A, Artuch R, Beyer K. López-Laso E, et al. Among authors: beyer k. J Neurol. 2009 Nov;256(11):1816-24. doi: 10.1007/s00415-009-5198-z. Epub 2009 Jun 16. J Neurol. 2009. PMID: 19533203
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R. López-Laso E, et al. Among authors: beyer k. J Neurol. 2011 Dec;258(12):2155-62. doi: 10.1007/s00415-011-6079-9. Epub 2011 May 10. J Neurol. 2011. PMID: 21556877
Dyskinesias as a limiting factor in the treatment of Segawa disease.
López-Laso E, Beyer K, Opladen T, Artuch R, Saunders-Pullman R. López-Laso E, et al. Among authors: beyer k. Pediatr Neurol. 2012 Jun;46(6):404-6. doi: 10.1016/j.pediatrneurol.2012.03.003. Pediatr Neurol. 2012. PMID: 22633640 Free PMC article.
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: beyer k. 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.
951 results