People / Staff

Maria del Carmen Fons Estupiña

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Publications

  • Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.

    Broadening the spectrum of neonatal hemochromatosis

    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Number of citations: 6

    [doi:10.1080/14767058.2018.1506442]

  • Verdura E, Fons-Estupina C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A and Pujol A.

    Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

    JOURNAL OF MEDICAL GENETICS . 57(2): 132-137. Number of citations: 30

    [doi:10.1136/jmedgenet-2019-106373]

  • François C, Ripollés P, Ferreri L, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Zatorre RJ, García-Alix A, Bosch-Galceran L and Rodriguez-Fornells A.

    RIGHT STRUCTURAL AND FUNCTIONAL REORGANIZATION IN 4-YEAR-OLD CHILDREN WITH PERINATAL ARTERIAL ISCHEMIC STROKE PREDICT LANGUAGE PRODUCTION

    eNeuro . 6(4): . Number of citations: 18

    [doi:10.1523/ENEURO.0447-18.2019]

  • Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.

    Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

    MEDICINA-BUENOS AIRES . 79(s3): 6-9.

  • Fons-Estupina C.

    Sindromes epilepticos de inicio neonatal. Etiologias y proceso diagnostico.

    REVISTA DE NEUROLOGIA . 66(s02): 61-69.

  • 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]

  • 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. Number of citations: 19

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

  • Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons-Estupina C, Armstrong-Moron J, Barrios D, Díaz-Flores F, Tirado P, Couce ML and Gutiérrez-Solana LG.

    Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

    JOURNAL OF HUMAN GENETICS . 62(2): 185-189. Number of citations: 19

    [doi:10.1038/jhg.2016.104]

  • Fons-Estupina C and Campistol-Plana J.

    Creatine Defects and Central Nervous System.

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 285-289. Number of citations: 19

    [doi:10.1016/j.spen.2016.11.003]

  • François C, Ripollés P, Bosch-Galceran L, García-Alix A, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Gaitán H and Rodriguez-Fornells A.

    Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity

    Cortex . 77: 95-118. Number of citations: 22

    [doi:10.1016/j.cortex.2016.01.010]