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Publicacions

  • Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.

    L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.

    BRAIN . 147(5): 1653-1666.

    [doi:10.1093/brain/awae041]

  • Rullo-Tubau J, Martinez-Molledo M, Bartoccioni P, Puch-Giner I, Arias AY, Saen-Oon S, Stephan-Otto Attolini C, Artuch-Iriberri R, Díaz L, Guallar V, Errasti-Murugarren E, Palacín M and Llorca O.

    Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.

    NATURE COMMUNICATIONS . 15(1): 2986-2986.

    [doi:10.1038/s41467-024-47385-3]

  • Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch-Iriberri R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J and Ruiz-Pesini E.

    Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 148-148.

    [doi:10.1186/s13023-024-03165-2]

  • Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

    CLINICAL CHEMISTRY AND LABORATORY MEDICINE . : .

    [doi:10.1515/cclm-2023-1291]

  • Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.

    Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

    JOURNAL OF MEDICAL GENETICS . : .

    [doi:10.1136/jmg-2024-109898]

  • Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A and Alonso-Colmenero I.

    Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy

    Frontiers in Cell and Developmental Biology . 12: .

    [doi:10.3389/fcell.2024.1321282]

  • Adel MR, Antón-Galindo E, Gago-Garcia E, Arias-Dimas A, Arenas C, Artuch-Iriberri R, Cormand B and Fernandez-Castillo N.

    Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine

    Pharmaceuticals . 17(2): .

    [doi:10.3390/ph17020254]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . : . Nº de cites: 1

    [doi:10.1038/s41431-023-01526-2]

  • Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M.

    Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    SCIENTIFIC REPORTS . 13(1): 22783-22783.

    [doi:10.1038/s41598-023-49518-y]

  • Mayayo-Vallverdú C, Prat E, Vecino-Pérez M, González L, Gràcia-Garcia S, San Miguel L, Lopera N, Arias A, Artuch-Iriberri R, López de Heredia M, Torrecilla C, Rousaud-Barón F, Angerri O, Errasti-Murugarren E and Nunes V.

    Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(24): .

    [doi:10.3390/ijms242417140]