Publications
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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): . Number of citations: 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): . Number of citations: 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, Macaya A, 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. Number of citations: 13
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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. Number of citations: 1
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Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E and Emperador S.
Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene
STEM CELL RESEARCH . 59: 102632-102632.
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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. Number of citations: 1
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Parrado A, Rubio G, Serrano M, De la Morena-Barrio ME, Ibáñez-Micó S, Ruiz-Lafuente N, Schwartz-Albiez R, Esteve-Solé A, Alsina L, Corral J and Hernández-Caselles T.
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
Glycobiology . 32(2): 84-100. Number of citations: 3
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Ramon-Krauel M, Amat-Bou M, Serrano M, Martinez-Monseny T and Lerin C.
Targeting the Gut Microbiome in Prader-Willi Syndrome.
Journal of Clinical Medicine . 10(22): 5328. Number of citations: 1
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Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution
JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Number of citations: 7
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Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V and Rahman S.
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Annals of Clinical and Translational Neurology . 8(11): 2155-2165. Number of citations: 8