Browsing Producción Científica by Subject "Dopa-responsive dystonia"

Now showing items 1-2 of 2

    • Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes 

      Fernández Ramos, Joaquín Alejandro; Torre‑Aguilar, M. J. de la; Quintáns, Beatriz; Pérez Navero, Juan Luis; Beyer, Katrin; López-Laso, Eduardo (Elsevier, 2021)
      Introduction In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed ...

    • Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease 

      López-Laso, Eduardo; Sánchez Raya, Araceli; Moriana Elvira, Juan Antonio; Martínez Gual, Eduardo; Camino-León, Rafael; Mateos-González, María Elena; Pérez Navero, Juan Luis; Ochoa Sepúlveda, Juan J.; Ormazabal, Aida; Opladen, Thomas; Klein, Christine; Lao-Villadóniga, José Ignacio; Beyer, Katrin; Artuch, Rafael (Springer, 2011)
      Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was expanded to ...