Persones / Equip Humà

Délia Yubero Siles

Buscador de publicacions

Publicacions

  • 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 cites: 40

    [doi:10.1002/jimd.12156]

  • 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 cites: 8

    [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 cites: 8

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

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de cites: 8

    [doi:10.1002/ajmg.a.61357]

  • Zouvelou V, Yubero-Siles D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Pérez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch-Iriberri R and Pons R.

    The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(3): 427-437. Nº de cites: 20

    [doi:10.1016/j.ejpn.2019.02.001]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 28

    [doi:10.1038/s41598-018-37542-2]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de cites: 13

    [doi:10.3390/jcm8010068]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de cites: 9

    [doi:10.1007/s10545-018-0224-x]

  • Yubero-Siles D and Artuch-Iriberri R.

    NGS for Metabolic Disease Diagnosis.

    ejifcc . 29(3): 227-229. Nº de cites: 3

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de cites: 16

    [doi:10.1097/MCD.0000000000000237]