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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Nº de cites: 16

    [doi:10.1186/s13023-020-1317-9]

  • Verdura E, Fons-Estupina C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A and Pujol A.

    Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

    JOURNAL OF MEDICAL GENETICS . 57(2): 132-137. Nº de cites: 22

    [doi:10.1136/jmedgenet-2019-106373]

  • Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics . 10: 1300-1300. Nº de cites: 7

    [doi:10.3389/fgene.2019.01300]

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

    Comprehensive Analysis of GABAA-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: 8

    [doi:10.3390/ijms21020518]

  • Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.

    Okur-Chung neurodevelopmental syndrome in a patient from Spain

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Nº de cites: 13

    [doi:10.1002/ajmg.a.61405]

  • Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero-Siles D, Garcia-Cazorla A, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Infectious stress triggers a POLG-related mitochondrial disease

    Neurogenetics . 21(1): 19-27. Nº de cites: 5

    [doi:10.1007/s10048-019-00593-2]

  • Murai H, Uzawa A, Suzuki Y, Imai T, Shiraishi H, Suzuki H, Okumura M, O'Brien F, Wang JJ, Fujita KP, Utsugisawa K and REGAIN Study Group.

    Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study.

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 407: 116419-116419. Nº de cites: 11

    [doi:10.1016/j.jns.2019.08.004]

  • Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.

    Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

    Fluids and Barriers of the CNS . 16(1): 34-34. Nº de cites: 7

    [doi:10.1186/s12987-019-0154-5]

  • Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Baric, Ivo, Lund, Allan M., Koelker, Stefan, Williams, Monique, Hoerster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M. R., Haberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Garcia-Cazorla A, Cortes i Saladelafont, E., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grunewald, S., Chakrapani, A., Hwu, W. -L., Chien, Y. -H., Lee, N. -C., Karall, D., Scholl-Buergi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Muehlhausen, C., Schiff, M., Pena-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Ortega, D. G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Luesebrink, N., Jalan, A., Sokal, E., Legros, V. and Nassogne, M. C..

    Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(6): 1162-1175. Nº de cites: 23

    [doi:10.1002/jimd.12066]

  • Martins J, Darling A, Garrido C, Espinós C, Martí MJ, Dueñas BP and Temudo T.

    Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients

    Movement Disorders Clinical Practice . 6(8): 704-707.

    [doi:10.1002/mdc3.12842]