People / Staff

Maria del Carmen Fons Estupiña

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Publications

  • 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: 14

    [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: 18

    [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: 17

    [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: 21

    [doi:10.1016/j.cortex.2016.01.010]

  • García-Villoria J, Navarro-Sastre A, Fons-Estupina C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MT, González I, Hernández-Gonzalez A, Fernández C, Campistol-Plana J, Delpiccolo C, Cortés N, Messeguer A, Briones P and Ribes A.

    Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis (vol 42, pg 27, 2009)

    CLINICAL BIOCHEMISTRY . 49(1-2): 197-197.

    [doi:10.1016/j.clinbiochem.2015.11.012]

  • Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

    ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Number of citations: 17

    [doi:10.1186/s13023-015-0376-9]