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Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to <i>TWNK</i> Mutations by Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel A. Martín
Published 2021-12-01
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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement by Eduardo de la Fuente-Munoz, Ana Van Den Rym, Ana Van Den Rym, Ana Van Den Rym, Blanca García-Solis, Blanca García-Solis, Blanca García-Solis, Juliana Ochoa Grullón, Kissy Guevara-Hoyer, Miguel Fernández-Arquero, Miguel Fernández-Arquero, Lucía Galán Dávila, Jorge Matías-Guiú, Silvia Sánchez-Ramón, Silvia Sánchez-Ramón, Rebeca Pérez de Diego, Rebeca Pérez de Diego, Rebeca Pérez de Diego
Published 2022-06-01
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