Publications
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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. Number of citations: 5
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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. Number of citations: 8
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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. Number of citations: 18
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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. Number of citations: 26
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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): . Number of citations: 12
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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. Number of citations: 9
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Yubero-Siles D and Artuch-Iriberri R.
NGS for Metabolic Disease Diagnosis.
ejifcc . 29(3): 227-229. Number of citations: 3
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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. Number of citations: 16
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Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Number of citations: 7
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Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency: an update
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 18(6): 491-498. Number of citations: 20