Personas / Equipo Humano

Mercedes Serrano Gimaré

Buscador de publicaciones

Publicaciones

  • 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 citas: 34

    [doi:10.3390/ijms19020619]

  • Serrano M.

    CIVIL SOCIETY AND RARE DISEASES

    ARBOR-CIENCIA PENSAMIENTO Y CULTURA . 194(789): 459. Nº de citas: 1

    [doi:10.3989/arbor.2018.789n3001]

  • 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(1): 12288-12288. Nº de citas: 18

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

  • Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Nº de citas: 13

    [doi:10.1186/s13023-017-0707-0]

  • de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de citas: 14

    [doi:10.1007/s10545-017-0028-4]

  • Puerta-Roldan P, Guillen-Quesada A, Carrasco-Torrents R, Muchart-Lopez J, Serrano M and Ferrer Vidal-Barraquer E.

    Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge

    REVISTA DE NEUROLOGIA . 65(3): 112-116. Nº de citas: 2

    [doi:10.33588/rn.6503.2017114]

  • Serrano M.

    Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

    Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.

    [doi:10.19080/GJIDD.2017.01.555573]

  • Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.

    A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    JOURNAL OF PEDIATRICS . 183: 170-170. Nº de citas: 22

    [doi:10.1016/j.jpeds.2016.12.060]

  • García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.

    Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

    PLoS One . 11(7): . Nº de citas: 6

    [doi:10.1371/journal.pone.0158863]

  • Serrano M, Vilaseca MA and Pérez-Payarols J.

    Isotretinoin, Trimethylaminuria and the internet

    Journal of Rare Disorders: Diagnosis &Therapy . 2(1): 1-2.