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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.

    Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Nº de cites: 52

    [doi:10.1016/j.mito.2016.06.007]

  • Ballester-Plané J, Laporta-Hoyos O, Macaya A, Poo P, Meléndez-Plumed M, Vázquez É, Delgado I, Zubiaurre-Elorza L, Narberhaus A, Toro-Tamargo E, Russi ME, Tenorio V, Segarra D and Pueyo R.

    Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates

    RESEARCH IN DEVELOPMENTAL DISABILITIES . 56: 83-98. Nº de cites: 21

    [doi:10.1016/j.ridd.2016.04.009]

  • Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortés-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S and Additional individual contributors of the E-IMD consortium.

    Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(5): 661-672. Nº de cites: 54

    [doi:10.1007/s10545-016-9938-9]

  • Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.

    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Nº de cites: 28

    [doi:10.1111/dmcn.13114]

  • García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.

    Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

    PLoS One . 11(7): . Nº de cites: 7

    [doi:10.1371/journal.pone.0158863]

  • Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Pérez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C and Fung VS.

    Phenotypic insights into ADCY5-associated disease

    MOVEMENT DISORDERS . 31(7): 1033-1040. Nº de cites: 92

    [doi:10.1002/mds.26598]

  • 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: 2

    [doi:10.1016/j.dib.2016.03.038]

  • Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

    METABOLIC BRAIN DISEASE . 31(3): 705-709. Nº de cites: 7

    [doi:10.1007/s11011-015-9780-z]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    PLoS One . 11(5): . Nº de cites: 40

    [doi:10.1371/journal.pone.0156359]

  • Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Pérez-Dueñas B, Paciorkowski AR and Kurian MA.

    Delineation of the movement disorders associated with FOXG1 mutations

    Neurology . 86(19): 1794-1800. Nº de cites: 58

    [doi:10.1212/WNL.0000000000002585]