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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 ...