Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • Jimenez E, Ormazabal-Herrero A, Serrano M, Ortez-Gonzalez CI, Artuch-Iriberri R, Garcia-Cazorla A and Campistol-Plana J.

    Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases

    REVISTA DE NEUROLOGIA . 54(7): 394-398. Nº de cites: 4

    [doi:10.33588/rn.5407.2011454]

  • Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch-Iriberri R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C and Navas P.

    Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    JOURNAL OF MEDICAL GENETICS . 49(3): 187-191. Nº de cites: 96

    [doi:10.1136/jmedgenet-2011-100394]

  • Fons-Estupina C, Rizzu P, Garcia-Cazorla A, Martorell-Sampol L, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Fernández-Alvarez E.

    TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

    BRAIN & DEVELOPMENT . 34(3): 255-257. Nº de cites: 20

    [doi:10.1016/j.braindev.2011.04.007]

  • Fons-Estupina C, Campistol-Plana J, Panagiotakaki, E, Giannotta, M, Arzimanoglou A, Gobbi, G, Neville, B, Ebinger, F, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Ninan, M, Sange, G, Artuch-Iriberri R, Schyns, T, Vavassori, R and Poncelin, D.

    Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(1): 10-14. Nº de cites: 26

    [doi:10.1016/j.ejpn.2011.08.006]

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.

    JIMD Reports . 4: 13-16. Nº de cites: 4

    [doi:10.1007/8904_2011_41]

  • López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal-Herrero A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K and Artuch-Iriberri R.

    Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

    JOURNAL OF NEUROLOGY . 258(12): 2155-2162. Nº de cites: 25

    [doi:10.1007/s00415-011-6079-9]

  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Nº de cites: 8

    [doi:10.1016/j.mito.2011.06.009]

  • Delgadillo V, O'Callaghan-Gordo M, Artuch-Iriberri R, Montero-Sanchez R and Pineda M.

    Genistein supplementation in patients affected by Sanfilippo disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(5): 1039-1044. Nº de cites: 77

    [doi:10.1007/s10545-011-9342-4]

  • Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazabal-Herrero A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch-Iriberri R, Ugarte M and Desviat LR.

    Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics . 12(3): 183-191. Nº de cites: 34

    [doi:10.1007/s10048-011-0279-4]

  • Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch-Iriberri R, Desviat LR, Ugarte M and Pérez B.

    Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(4): 929-939. Nº de cites: 48

    [doi:10.1007/s10545-011-9328-2]