Publicaciones
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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
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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. Nº de citas: 8
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Pérez-Rius C, Castellanos A, Gaitán-Peñas H, Navarro A, Artuch-Iriberri R, Barrallo-Gimeno A and Estévez R.
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption
JOURNAL OF PHYSIOLOGY-LONDON . 597(15): 3969-3983. Nº de citas: 7
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Casas-Alba D, Valero-Rello A, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Cabrerizo M, Molero M, Artuch-Iriberri R, Fortuny-Guasch C, Munoz-Almagro C and Launes-Montana C.
Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis
PEDIATRIC NEUROLOGY . 96: 70-73. Nº de citas: 6
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Pope S, Artuch-Iriberri R, Heales S and Rahman S.
Cerebral folate deficiency: Analytical tests and differential diagnosis
JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 655-672. Nº de citas: 41
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Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
SCIENTIFIC REPORTS . 9: 9128-9128. Nº de citas: 4
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Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium and Serrano M.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
ANNALS OF NEUROLOGY . 85(5): 740-751. Nº de citas: 46
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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. Nº de citas: 18
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Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B and Serrano M.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
JOURNAL OF MEDICAL GENETICS . 56(4): 236-245. Nº de citas: 14
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Baide-Mairena H, Gaudó P, Marti-Sanchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch-Iriberri R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya C, Bayona-Bafaluy MP and Pérez-Dueñas B.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Nº de citas: 15