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New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the <i>NMNAT1</i> Pathological Alterations Due to Compound Heterozygous Mutations and Identificati... by Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro, Esther Pomares
Published 2021-02-01
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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias by Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
Published 2022-10-01
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