Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Number of citations: 13

    [doi:10.1038/s41598-016-0008-1]

  • Irune Fernandez Prieto, Caprile C, Tinoco-González D, Bet Ristol Orriols, López-Sala A, Poo P, Pons-Gimeno F and Navarra J.

    Pitch perception deficits in nonverbal learning disability

    RESEARCH IN DEVELOPMENTAL DISABILITIES . 59: 378-386. Number of citations: 3

    [doi:10.1016/j.ridd.2016.09.011]

  • Opladen T, Cortés-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla A and International Working Group on Neurotransmitter related disorders (iNTD).

    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.

    Molecular genetics and metabolism reports . 9: 61-66. Number of citations: 42

    [doi:10.1016/j.ymgmr.2016.09.006]

  • Ortigoza-Escobar JD and Pérez-Dueñas B.

    Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 341-350. Number of citations: 4

    [doi:10.1016/j.spen.2016.11.008]

  • Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R and Garcia-Cazorla A.

    Pyridoxal Phosphate Supplementation in Neuropediatric Disorders

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 351-358. Number of citations: 5

    [doi:10.1016/j.spen.2016.11.009]

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.

    Neuromuscular Manifestations in Mitochondria! Diseases in Children

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Number of citations: 6

    [doi:10.1016/j.spen.2016.11.004]

  • Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.

    Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Number of citations: 23

    [doi:10.1016/j.spen.2016.11.005]

  • 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. Number of citations: 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. Number of citations: 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. Number of citations: 54

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