Research

Metabolomics and biochemical genetics

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Publications

  • 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: 5

    [doi:10.1242/dmm.049083]

  • 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: 14

    [doi:10.1212/WNL.0000000000013278]

  • 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: 2

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • 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.

    [doi:10.1016/j.scr.2021.102632]

  • 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: 2

    [doi:10.1016/j.parkreldis.2021.11.014]

  • 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

    [doi:10.3390/jcm10225328]

  • 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: 12

    [doi:10.1016/j.jbc.2021.101338]

  • 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: 16

    [doi:10.1002/acn3.51470]

  • 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. Number of citations: 8

    [doi:10.1016/j.biopha.2021.112143]

  • Serrano M.

    Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.

    Frontiers in pediatrics . 9: 717864-717864. Number of citations: 7

    [doi:10.3389/fped.2021.717864]