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Publications

  • 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.

    [doi:10.1111/cge.14138]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Calvo-López A, Rebollo-Calderon B, Ormazabal-Herrero A, Artuch-Iriberri R, Rosell Ferrer X, Alonso-Chamarro J and Puyol M.

    Biomedical point-of-care microanalyzer for potentiometric determination of ammonium ion in plasma and whole blood.

    ANAL CHIM ACTA . 1205: 339782-339782.

    [doi:10.1016/j.aca.2022.339782]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493.

    [doi:10.1111/cge.14113]

  • Paredes-Fuentes AJ, Oliva C, Montero-Sanchez R, Alcaide P, Ruijter GJG, García-Villoria J, Ruiz-Sala P and Artuch-Iriberri R.

    Technical Aspects of Coenzyme Q(10) Analysis: Validation of a New HPLC-ED Method.

    Antioxidants . 11(3): .

    [doi:10.3390/antiox11030528]

  • Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch-Iriberri R, Montoya J, Ruiz-Pesini E and Emperador S.

    Development and characterization of cell models harbouring mtDNA deletions for i n vitro study of Pearson syndrome

    DISEASE MODELS & MECHANISMS . 15(3): .

    [doi:10.1242/dmm.049083]

  • Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Alfons Macaya, Pujol A and GWMD working group.

    Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology . 98(9): 912-923.

    [doi:10.1212/WNL.0000000000013278]

  • Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quiijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.

    Cerebrospinal Fluid Ion Analysis in Neonatal Seizures.

    PEDIATRIC NEUROLOGY . 128: 16-19.

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E and Emperador S.

    Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

    STEM CELL RESEARCH . 59: 102632-102632.

    [doi:10.1016/j.scr.2021.102632]

  • Julià-Palacios NA, Molina-Anguita, C, Bondarenko, MS, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.

    Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64: 915-923. Number of citations: 1

    [doi:10.1111/dmcn.15140]