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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • 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: 39

    [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. Nº de cites: 41

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

  • Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    RETRACTED: Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement (Retracted article. See vol. 83, pg. 715, 2018)

    BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Nº de cites: 5

    [doi:10.1016/j.biopsych.2017.05.028]

  • Richard E, Gallego-Villar L, Rivera-Barahona A, De Oyarzabal-Sanz AL, Pérez B, Rodríguez-Pombo P and Ruiz-Desviat L.

    Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

    OXIDATIVE MEDICINE AND CELLULAR LONGEVITY . 2018: 1246069-1246069. Nº de cites: 27

    [doi:10.1155/2018/1246069]

  • Garcia-Cazorla A and Saudubray JM.

    New insights in inborn errors of metabolism are leading to new paradigms in child neurology

    REVISTA DE NEUROLOGIA . 66: 37-42. Nº de cites: 1

  • 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: 7

    [doi:10.1038/s41598-017-15063-8]

  • 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: 30

    [doi:10.1038/nprot.2017.103]

  • Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T and Pérez-Dueñas B.

    Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study

    MOVEMENT DISORDERS . 32(11): 1620-1630. Nº de cites: 17

    [doi:10.1002/mds.27129]

  • Casas-Alba D, Fernández de Sevilla-Estrach M, Valero-Rello A, Fortuny-Guasch C, García-García JJ, Ortez-Gonzalez CI, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Luaces-Cubells C, Barrabeig I, González-Sanz R, Cabrerizo M, Munoz-Almagro C and Launes-Montana C.

    Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia

    CLINICAL MICROBIOLOGY AND INFECTION . 23(11): 874-881. Nº de cites: 58

    [doi:10.1016/j.cmi.2017.03.016]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    SCIENTIFIC REPORTS . 7: 12288-12288. Nº de cites: 19

    [doi:10.1038/s41598-017-11620-3]