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Artículo
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Martínez Rubio, Dolores; Hinarejos, Isabel; Sancho, Paula; Gorría Redondo, Nerea; Bernadó Fonz, Raquel; Tello, Cristina; Mir Rivera, Pablo; Espinós, Carmen (MDPI, 2022-12-08)Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many ...
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Artículo
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Jesús, Silvia; Hinarejos, Isabel; Carrillo, Fátima; Martínez Rubio, Dolores; Macías-García, Daniel; Sánchez-Monteagudo, Ana; Adarmes, Astrid; Mir Rivera, Pablo; Espinós, Carmen (2021)The NR4A2/NURR1 gene (MIM*601828) has recently been associated with autosomal-dominant early-onset dystonia-parkinsonism ...