People / Staff

Rafael Artuch Iriberri

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Publications

  • Paredes-Fuentes AJ, Oliva-Mussara C, Urreizti R, Yubero-Siles D and Artuch-Iriberri R.

    Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

    CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES . 60(4): 270-289. Number of citations: 5

    [doi:10.1080/10408363.2023.2166013]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Number of citations: 5

    [doi:10.1111/bpa.13134]

  • Cantó-Santos J, Valls-Roca L, Tobías E, García-García FJ, Guitart-Mampel M, Esteve-Codina A, Martín-Mur B, Casado-Rio M, Artuch-Iriberri R, Solsona-Vilarrasa E, Fernandez-Checa JC, García-Ruiz C, Rentero C, Enrich C, Moreno-Lozano PJ, Milisenda JC, Cardellach F, Grau-Junyent JM and Garrabou G.

    Unravelling inclusion body myositis using a patient-derived fibroblast model

    JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE . 14(2): 964-977. Number of citations: 4

    [doi:10.1002/jcsm.13178]

  • Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.

    Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

    JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Number of citations: 4

    [doi:10.1136/jmg-2022-108690]

  • López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J.

    A crowdsourcing database for the copy-number variation of the Spanish population

    HUMAN GENOMICS . 17(1): 20-20. Number of citations: 2

    [doi:10.1186/s40246-023-00466-8]

  • Tristan-Noguero A, Fernández Carasa I, Calatayud Aristoy C, Bermejo-Casadesús C, Marina Pons Espinal, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch-Iriberri R, Raya Á, Garcia-Cazorla A and Consiglio A.

    iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

    EMBO Molecular Medicine . 15(3): . Number of citations: 3

    [doi:10.15252/emmm.202215847]

  • Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch-Iriberri R, Pias-Peleteiro LD, Garcia-Cazorla A, Baric I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM and Willemsen MAAP.

    Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(1): 66-75. Number of citations: 9

    [doi:10.1002/jimd.12554]

  • Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Pathological Features in Paediatric Patients with TK2 Deficiency

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Number of citations: 1

    [doi:10.3390/ijms231911002]

  • Hernández-Camacho JD, Fernández-Ayala DJM, Vicente-García C, Navas-Enamorado I, López-Lluch G, Oliva-Mussara C, Artuch-Iriberri R, Garcia-Villoria J, Ribes A, de Cabo R, Carvajal JJ and Navas P.

    Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

    FRONTIERS IN PHYSIOLOGY . 13: 898792-898792. Number of citations: 2

    [doi:10.3389/fphys.2022.898792]

  • Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B.

    The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    CLINICAL GENETICS . 102(1): 40-55. Number of citations: 4

    [doi:10.1111/cge.14138]