Publicaciones
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Serrano M.
Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.
Frontiers in pediatrics . 9: 717864-717864. Nº de citas: 3
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Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
GENES . 12(10): 1590. Nº de citas: 8
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Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Marti-Sanchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch-Iriberri R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R and Lucas JJ.
CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease
SCIENCE TRANSLATIONAL MEDICINE . 13(613): . Nº de citas: 9
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Afia AB, Vila E, MacDowell KS, Ormazabal-Herrero A, Leza JC, Haro JM, Artuch-Iriberri R, Ramos B and Garcia-Bueno B.
Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology
JOURNAL OF NEUROINFLAMMATION . 18(1): 198-198. Nº de citas: 8
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Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up
BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Nº de citas: 5
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Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness
PARKINSONISM & RELATED DISORDERS . 91: 19-22. Nº de citas: 1
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Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
CLINICAL CHEMISTRY . 67(8): 1113-1121. Nº de citas: 6
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Cechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E and Sarafoglou K.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
MOLECULAR GENETICS AND METABOLISM . 133(4): 397-399. Nº de citas: 2
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Rojano E, Córdoba-Caballero J, Jabato FM, Gallego D, Serrano M, Pérez B, Parés-Aguilar Á, Perkins JR, Ranea JAG and Seoane-Zonjic P.
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.
Journal of Personalized Medicine . 11(8): 730. Nº de citas: 2
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Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
AUTISM RESEARCH . 14(6): 1088-1100. Nº de citas: 5