Research

Metabolomics and biochemical genetics

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Publications

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Number of citations: 4

    [doi:10.1038/s41598-019-45674-2]

  • Palacio-Navarro A, López-Sala A, Colomé-Roura R, Turón M, Callejón L, Marta Sanz Palau, Sans A, Poo P and Boix Lluch C.

    Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury

    REVISTA DE NEUROLOGIA . 68(11): 445-452. Number of citations: 1

    [doi:10.33588/rn.6811.2018346]

  • Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.

    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    CLINICAL GENETICS . 95(6): 726-731. Number of citations: 9

    [doi:10.1111/cge.13504]

  • Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium and Serrano M.

    AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    ANNALS OF NEUROLOGY . 85(5): 740-751. Number of citations: 46

    [doi:10.1002/ana.25457]

  • Zouvelou V, Yubero-Siles D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Pérez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch-Iriberri R and Pons R.

    The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(3): 427-437. Number of citations: 18

    [doi:10.1016/j.ejpn.2019.02.001]

  • Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez R, García Silva MT, G-Solana LG, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, MártinezBugallo F, Martín Viota L, Vitoria I, Lefeber D, Girós ML, Serrano M, Ugarte M, Pérez-Dueñas B and Perez-Cerdá C.

    Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    CLINICAL GENETICS . 95(5): 615-626. Number of citations: 27

    [doi:10.1111/cge.13508]

  • Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B and Serrano M.

    From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

    JOURNAL OF MEDICAL GENETICS . 56(4): 236-245. Number of citations: 14

    [doi:10.1136/jmedgenet-2018-105588]

  • Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan-Gordo M, Ortez-Gonzalez CI, Nascimento-Osorio A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Munoz C, Muchart-Lopez J, Huisman TAGM, Poretti A, Lupo V, Espinós C and Pérez-Dueñas B.

    PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

    PARKINSONISM & RELATED DISORDERS . 61: 179-186. Number of citations: 27

    [doi:10.1016/j.parkreldis.2018.10.013]

  • Baide-Mairena H, Gaudó P, Marti-Sanchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch-Iriberri R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya C, Bayona-Bafaluy MP and Pérez-Dueñas B.

    Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

    MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Number of citations: 15

    [doi:10.1016/j.ymgme.2019.01.001]

  • Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla-Olivas SM, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J and Weisfeld-Adams J.

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 333-352. Number of citations: 39

    [doi:10.1002/jimd.12041]