Research

Metabolomics and biochemical genetics

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Publications

  • González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra-March C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch-Iriberri R, Ezquerra M, Fernández-Santiago R and Garrabou G.

    Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations

    NEUROBIOLOGY OF AGING . 65: 206-216. Number of citations: 16

    [doi:10.1016/j.neurobiolaging.2018.01.021]

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Number of citations: 4

    [doi:10.33588/rn.6607.2017498]

  • Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC and Finkel RS.

    Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

    NEW ENGLAND JOURNAL OF MEDICINE . 378(7): 625-635. Number of citations: 991

    [doi:10.1056/NEJMoa1710504]

  • Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch-Iriberri R, López-Gallardo E, Bayona-Bafaluy MP, Montoya C and Ruiz-Pesini E.

    The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

    FRONTIERS IN NEUROSCIENCE . 12: 61-61. Number of citations: 19

    [doi:10.3389/fnins.2018.00061]

  • Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Number of citations: 38

    [doi:10.3390/ijms19020619]

  • Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.

    Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

    ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Number of citations: 41

    [doi:10.1186/s13023-018-0758-x]

  • Sanz Marcos N, Malpique R, Sierra-March C, López-Bermejo A, Bassols J and Ibañez-Toda L.

    Body Composition and Circulating Polyunsaturated Fatty Acids at Age 6 Years: A Longitudinal Pilot Study

    HORMONE RESEARCH IN PAEDIATRICS . 90(6): 414-418.

    [doi:10.1159/000496988]

  • Serrano M.

    CIVIL SOCIETY AND RARE DISEASES

    ARBOR-CIENCIA PENSAMIENTO Y CULTURA . 194(789): 459. Number of citations: 2

    [doi:10.3989/arbor.2018.789n3001]

  • Campistol-Plana J.

    Trastornos paroxísticos no epilépticos en el lactante.

    MEDICINA-BUENOS AIRES . 78 Suppl 2: 47-51.

  • Fons-Estupina C.

    Neonatal onset of epileptic syndromes. Causations and diagnostic process

    REVISTA DE NEUROLOGIA . 66: 61-69.