Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

por García-Carmona, Juan Antonio, Yousefzadeh, Matthew J., Alarcón-Soldevilla, Fernando, Fages-Caravaca, Eva, Kieu, Tra L., Witt, Mariah A., López-Ávila, Ángel, Niedernhofer, Laura J., Pérez-Vicente, José Antonio
Publicado 2021

Breath-Hold Diving-Related Decompression Sickness with Brain Involvement: From Neuroimaging to Pathophysiology

por Sánchez-Villalobos, José Manuel, Fortuna-Alcaraz, María Lorenza, Serrano-Velasco, Laura, Pujante-Escudero, Ángel, Garnés-Sánchez, Carmen María, Pérez-Garcilazo, Jorge Edverto, Olea-González, Agustín, Pérez-Vicente, José Antonio
Publicado 2022

Upregulation of Heat-Shock Protein (hsp)-27 in a Patient with Heterozygous SPG11 c.1951C>T and SYNJ1 c.2614G>T Mutations Causing Clinical Spastic Paraplegia

por García-Carmona, Juan Antonio, Amores-Iniesta, Joaquín, Soler-Usero, José, Cerdán-Sánchez, María, Navarro-Zaragoza, Javier, López-López, María, Soria-Torrecillas, Juan José, Ballesteros-Arenas, Ainhoa, Pérez-Vicente, José Antonio, Almela, Pilar
Publicado 2023