Visualitza per autor "Martínez-Rubio, Dolores"
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Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Sancho, Paula; Andrés-Bordería, Amparo; Gorría-Redondo, Nerea; Llano, Katia; Martínez-Rubio, Dolores; Yoldi-Petri, María Eugenia; Perez Dueñas, Belen (MDPI, 2021-03-02) -
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Martínez-Rubio, Dolores; Hinarejos Martínez, Isabel; Sancho, Paula; Gorría-Redondo, Nerea; Bernadó Fonz, Raquel Ana; Tello Diaz, Cristina; Perez Dueñas, Belen (MDPI, 2022-10-06) -
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Jesús Maestre, Silvia; Hinarejos Martínez, Isabel; Carrillo, Fátima; Martínez-Rubio, Dolores; Macias-Garcia, Daniel; Sánchez-Monteagudo, Ana; Perez Dueñas, Belen (Lippincott Williams & Wilkins, 2021-02) -
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3
Martínez-Rubio, Dolores; Rodriguez-Prieto, Ángela; Sancho, Paula; Navarro-González, Carmen; Gorría-Redondo, Nerea; Miquel-Leal, Javier; Perez Dueñas, Belen (Oxford University Press, 2022-11-11)