Publicacions
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Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K and López-Laso E.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
PARKINSONISM & RELATED DISORDERS . 94: 67-78. Nº de cites: 2
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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 cites: 8
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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 cites: 4
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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 cites: 10
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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 cites: 12
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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 cites: 11
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Mirra S, Arroyo RG, Domènech EB, Gavaldà-Navarro A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch-Iriberri R, Villarroya-Gombau F and Marfany G.
CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina
NEUROBIOLOGY OF DISEASE . 156: 105405-105405. Nº de cites: 15
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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 cites: 9
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Esparza-Moltó PB, Romero-Carramiñana I, Núñez de Arenas C, Pereira MP, Blanco N, Pardo B, Bates GR, Sánchez-Castillo C, Artuch-Iriberri R, Murphy MP, Esteban JA and Cuezva JM.
Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition
Plos Biology . 19(5): . Nº de cites: 28
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Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Nº de cites: 22