Publicaciones
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Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch-Iriberri R, Pias-Peleteiro LD, Garcia-Cazorla A, Baric I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM and Willemsen MAAP.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
JOURNAL OF INHERITED METABOLIC DISEASE . 46(1): 66-75. Nº de citas: 3
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Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.
Pathological Features in Paediatric Patients with TK2 Deficiency
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002.
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Hernández-Camacho JD, Fernández-Ayala DJM, Vicente-García C, Navas-Enamorado I, López-Lluch G, Oliva-Mussara C, Artuch-Iriberri R, Garcia-Villoria J, Ribes A, de Cabo R, Carvajal JJ and Navas P.
Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle
FRONTIERS IN PHYSIOLOGY . 13: 898792-898792. Nº de citas: 1
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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 citas: 1
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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 citas: 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 citas: 3
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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 citas: 4
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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 citas: 2
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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 citas: 3
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Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Alfons Macaya, Pujol A and GWMD working group.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology . 98(9): 912-923. Nº de citas: 11