Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • 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. Number of citations: 11

    [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. Number of citations: 19

    [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. Number of citations: 9

    [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. Number of citations: 15

    [doi:10.1016/j.jns.2019.08.004]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Number of citations: 9

    [doi:10.1002/ajmg.a.61357]

  • 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. Number of citations: 12

    [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. Number of citations: 30

    [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. Number of citations: 2

    [doi:10.1002/mdc3.12842]

  • Pérez-Grijalba V, García-Oguiza A, López M, Armstrong-Moron J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan-Gordo M, Pineda M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V and Domínguez-Garrido E.

    New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

    Molecular genetics & genomic medicine . 7(11): . Number of citations: 20

    [doi:10.1002/mgg3.972]

  • Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.

    A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Number of citations: 10

    [doi:10.1016/j.seizure.2019.07.019]