Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol-Plana J, Artuch-Iriberri R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A and Pérez B.

    Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    HUMAN MUTATION . 41(7): 1329-1338. Nº de citas: 20

    [doi:10.1002/humu.24026]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Nº de citas: 32

    [doi:10.1002/jimd.12156]

  • de la Fuente J, Amate J, González-Torres MC, Artuch-Iriberri R, García-Torrecillas JM and Fadda S.

    Effects of Levels of Self-Regulation and Regulatory Teaching on Strategies for Coping With Academic Stress in Undergraduate Students

    FRONTIERS IN PSYCHOLOGY . 11: 22-22. Nº de citas: 28

    [doi:10.3389/fpsyg.2020.00022]

  • 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 citas: 7

    [doi:10.3389/fgene.2019.01300]

  • 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 citas: 5

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

  • 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 citas: 7

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

  • Bodoy S, Sotillo F, Espino-Guarch M, Sperandeo MP, Ormazabal-Herrero A, Zorzano A, Sebastio G, Artuch-Iriberri R and Palacín M.

    Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(21): . Nº de citas: 16

    [doi:10.3390/ijms20215294]

  • Casasnovas C, Ruiz M, Schlüter A, Naudí A, Fourcade S, Veciana M, Castañer S, Albertí A, Bargalló N, Johnson M, Raymond GV, Fatemi A, Moser AB, Villarroya-Gombau F, Portero-Otín M, Artuch-Iriberri R, Pamplona R and Pujol A.

    Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

    neurotherapeutics : the journal of the american society for experimental neurotherapeutics . 16(4): 1167-1182. Nº de citas: 26

    [doi:10.1007/s13311-019-00735-2]

  • Gassió-Subirachs R, González MJ, Sans-Capdevila O, Artuch-Iriberri R, Sierra-March C, Ormazabal-Herrero A, Cuadras-Palleja D and Campistol-Plana J.

    Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(5): 685-691. Nº de citas: 4

    [doi:10.1016/j.ejpn.2019.08.005]

  • Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou-Munoz C, Casado-Rio M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch-Iriberri R, Cabo R, Jackson S and Navas P.

    ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

    Journal of Clinical Medicine . 8(9): . Nº de citas: 22

    [doi:10.3390/jcm8091374]