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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.
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.
Peripheral α-synuclein isoforms are potential biomarkers for diagnosis and prognosis of isolated REM sleep behavior disorder.
Arnaldo L, Urbizu A, Serradell M, Gaig C, Anillo A, Gea M, Vilas D, Ispierto L, Muñoz-Lopetegi A, Mayà G, Pastor P, Álvarez R, Santamaria J, Iranzo A, Beyer K. Arnaldo L, et al. Among authors: beyer k. Parkinsonism Relat Disord. 2023 Oct;115:105832. doi: 10.1016/j.parkreldis.2023.105832. Epub 2023 Sep 3. Parkinsonism Relat Disord. 2023. PMID: 37678102
925 results