Publicacions
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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. Nº de cites: 16
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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. Nº de cites: 34
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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. Nº de cites: 37
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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.
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Serrano M.
CIVIL SOCIETY AND RARE DISEASES
ARBOR-CIENCIA PENSAMIENTO Y CULTURA . 194(789): 459. Nº de cites: 1
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Campistol-Plana J.
Trastornos paroxísticos no epilépticos en el lactante.
MEDICINA-BUENOS AIRES . 78 Suppl 2: 47-51.
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Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency: an update
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 18(6): 491-498. Nº de cites: 20
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Mancuso M, McFarland R, Klopstock T, Hirano M and consortium on Trial Readiness in Mitochondrial Myopathies.
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.
NEUROMUSCULAR DISORDERS . 27(12): 1126-1137. Nº de cites: 46
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Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
SCIENTIFIC REPORTS . 7: 14675-14675. Nº de cites: 6
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Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Casado-Rio M, Sierra-March C, Garcia-Cazorla A, Kurian M, Pope S, Heales SJ and Artuch-Iriberri R.
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC
NATURE PROTOCOLS . 12(11): 2359-2375. Nº de cites: 21