Buscador de publicacions

Publicacions

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.

    PARKINSONISM & RELATED DISORDERS . 91: 19-22.

    [doi:10.1016/j.parkreldis.2021.08.010]

  • Xiol-Viñas C, Marina Heredia Torras, Pascual-Alonso A, De Oyarzabal-Sanz AL and Armstrong-Moron J.

    Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(19): .

    [doi:10.3390/ijms221910375]

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

    Energy metabolism in childhood neurodevelopmental disorders.

    EBioMedicine . 69: 103474-103474.

    [doi:10.1016/j.ebiom.2021.103474]

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 5

    [doi:10.1007/s00401-020-02223-w]

  • De Oyarzabal-Sanz AL, Xiol-Viñas C, Castells AA, Grau C, O'Callaghan-Gordo M, Fernández G, Alcántara S, Pineda M, Armstrong-Moron J, Altafaj X and Garcia-Cazorla A.

    Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(2): 518. Nº de cites: 3

    [doi:10.3390/ijms21020518]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de cites: 5

    [doi:10.1002/ajmg.a.61357]

  • 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:https://doi.org/10.1002/jimd.12153]

  • De Oyarzabal-Sanz AL and Marin-Valencia I.

    Synaptic energy metabolism and neuronal excitability, in sickness and health.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 220-236. Nº de cites: 13

    [doi:10.1002/jimd.12071]

  • Richard E, Gallego-Villar L, Rivera-Barahona A, De Oyarzabal-Sanz AL, Pérez B, Rodríguez-Pombo P and Ruiz-Desviat L.

    Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

    OXIDATIVE MEDICINE AND CELLULAR LONGEVITY . 2018: 1246069-1246069. Nº de cites: 15

    [doi:10.1155/2018/1246069]

  • Bravo-Alonso I, De Oyarzabal-Sanz AL, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.

    Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

    Data in brief . 7: 755-759. Nº de cites: 1

    [doi:10.1016/j.dib.2016.03.038]