Publicaciones
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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: 11
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Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD and Pérez-Dueñas B.
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 581-597. Nº de citas: 91
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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: 52
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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: 8
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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: 6
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Palacio-Navarro A, López-Sala A, Colomé-Roura R, Turón M, Callejón L, Marta Sanz Palau, Sans A, Poo P and Boix Lluch C.
Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury
REVISTA DE NEUROLOGIA . 68(11): 445-452. Nº de citas: 1
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Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
CLINICAL GENETICS . 95(6): 726-731. Nº de citas: 12
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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: 58
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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: 34
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Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez R, García Silva MT, G-Solana LG, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, MártinezBugallo F, Martín Viota L, Vitoria I, Lefeber D, Girós ML, Serrano M, Ugarte M, Pérez-Dueñas B and Perez-Cerdá C.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
CLINICAL GENETICS . 95(5): 615-626. Nº de citas: 33
