Publications
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Parisi C, Candela-Cantó SA, Serrano M, Català-Temprano A, Aparicio J and Hinojosa J.
Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report
CHILDS NERVOUS SYSTEM . 36(11): 2851-2856. Number of citations: 2
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Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.
Clinical presentation and proteomic signature of patients with TANGO2 mutations
JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 32
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Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Number of citations: 16
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de la Fuente J, Amate J, González-Torres MC, Artuch-Iriberri R, García-Torrecillas JM and Fadda S.
Effects of Levels of Self-Regulation and Regulatory Teaching on Strategies for Coping With Academic Stress in Undergraduate Students
FRONTIERS IN PSYCHOLOGY . 11: 22-22. Number of citations: 28
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Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome
Frontiers in Genetics . 10: 1300-1300. Number of citations: 7
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Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.
Okur-Chung neurodevelopmental syndrome in a patient from Spain
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Number of citations: 13
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Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S and Urreizti R.
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 201-204. Number of citations: 5
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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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Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.
Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins
Fluids and Barriers of the CNS . 16(1): 34-34. Number of citations: 7
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Bodoy S, Sotillo F, Espino-Guarch M, Sperandeo MP, Ormazabal-Herrero A, Zorzano A, Sebastio G, Artuch-Iriberri R and Palacín M.
Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(21): . Number of citations: 16