Publicacions
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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. Nº de cites: 4
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Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, 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(7): 915-923. Nº de cites: 4
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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. Nº de cites: 6
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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
ANALYTICA CHIMICA ACTA . 1205: 339782-339782. Nº de cites: 4
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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. Nº de cites: 8
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Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P and Lapunzina P.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Frontiers in Genetics . 13: 652454-652454. Nº de cites: 24
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Aparicio J, Niñerola-Baizán A, Perissinotti A, Rubí S, Muchart-Lopez J, Candela-Cantó SA, Campistol-Plana J and Setoain X.
Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET*
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 97: 43-49. Nº de cites: 3
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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 Q10 Analysis: Validation of a New HPLC-ED Method
ANTIOXIDANTS . 11(3): . Nº de cites: 3
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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): . Nº de cites: 3
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Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano 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. Nº de cites: 1