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  • Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:10.1002/jimd.12689]

  • Musokhranova U, Grau-Páez C, Vergara C, Rodríguez-Pascau L, Xiol-Viñas C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

    JOURNAL OF TRANSLATIONAL MEDICINE . 21(1): 756-756.

    [doi:10.1186/s12967-023-04622-5]

  • Justel M, Jou-Munoz C, Sariego A, Musokhranova U, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973.

    [doi:10.1136/jmg-2022-109132]

  • De Oyarzabal-Sanz AL, Musokhranova U, Barros LF and Garcia-Cazorla A.

    Energy metabolism in childhood neurodevelopmental disorders

    EBioMedicine . 69: 103474-103474. Nº de citas: 23

    [doi:10.1016/j.ebiom.2021.103474]

  • De Oyarzabal-Sanz AL, Musokhranova U, O'Callaghan-Gordo M, Bravo Alonso, Irene, Rejas, María Teresa, Armstrong-Moron J, Rodríguez Pombo, Pilar and Garcia-Cazorla A.

    Energy dysfunction in Rett syndrome: studying a neurogenetic disorder from the metabolic perspective

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(S1): .

    [doi:10.1002/jimd.12153]