Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.

    Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

    HUMAN MUTATION . 35(4): 470-477. Nº de citas: 59

    [doi:10.1002/humu.22513]

  • Casado-Rio M, Molero M, Sierra-March C, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Analysis of cerebrospinal fluid ?-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

    Electrophoresis . 35(8): 1181-1187. Nº de citas: 11

    [doi:10.1002/elps.201300261]

  • Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch-Iriberri R, Garcia-Cazorla A, Briones P and Ribes A.

    Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    HUMAN MOLECULAR GENETICS . 23(7): 1907-1915. Nº de citas: 55

    [doi:10.1093/hmg/ddt585]

  • Kalko SG, Paco-Mercader S, Jou-Munoz C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch-Iriberri R, Montero-Sanchez R, Torner-Rubies F, Nascimento-Osorio A, Ortez-Gonzalez CI, Colomer J and Jimenez-Mallebrera C.

    Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

    BMC Genomics . 15: 91-91. Nº de citas: 100

    [doi:10.1186/1471-2164-15-91]

  • Buján N, Arias A, Montero-Sanchez R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch-Iriberri R, Briones P and Ribes A.

    Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 37(1): 53-62. Nº de citas: 25

    [doi:10.1007/s10545-013-9620-4]

  • Molero M, Fernández-Ureña S, Jordán-García I, Serrano M, Ormazabal-Herrero A, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

    PLoS One . 8(12): . Nº de citas: 21

    [doi:10.1371/journal.pone.0083237]

  • Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.

    Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

    Gene . 532(2): 302-306. Nº de citas: 12

    [doi:10.1016/j.gene.2013.08.036]

  • Tondo M, Calpena E, Arriola G, Sanz P, Martorell-Sampol L, Ormazabal-Herrero A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Pérez-Dueñas B, Pérez-Cerda C and Artuch-Iriberri R.

    Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

    MOLECULAR GENETICS AND METABOLISM . 110(3): 231-236. Nº de citas: 11

    [doi:10.1016/j.ymgme.2013.06.021]

  • Alonso A, Merchán P, Sandoval JE, Sánchez-Arrones L, Artuch-Iriberri R, Ferrán JL, Martínez-de-la-Torre M and Puelles L.

    Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains

    BRAIN STRUCTURE & FUNCTION . 218(5): 1229-1277. Nº de citas: 96

    [doi:10.1007/s00429-012-0456-8]

  • Matos IV, Castejón E, Meavilla S, O'Callaghan-Gordo M, Garcia-Villoria J, López-Sala A, Ribes A, Artuch-Iriberri R and Garcia-Cazorla A.

    Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

    MOLECULAR GENETICS AND METABOLISM . 109(4): 360-365. Nº de citas: 29

    [doi:10.1016/j.ymgme.2013.05.007]