Persones / Equip Humà

Maria del Carmen Fons Estupiña

Buscador de publicacions

Publicacions

  • Pereira E, Rebollo M, Muchart-Lopez J, Agut-Quijano T, García-Alix A and Fons-Estupina C.

    Agenesis of the corpus callosum in a newborn with turner mosaicism.

    Pediatric Reports . 6(2): 5112-5112.

    [doi:10.4081/pr.2014.5112]

  • Ulate-Campos A, Fons-Estupina C, Artuch-Iriberri R, Castejón E, Martorell-Sampol L, Ozelius L, Pascual J and Campistol-Plana J.

    Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet

    PEDIATRIC NEUROLOGY . 50(4): 377-379. Nº de cites: 30

    [doi:10.1016/j.pediatrneurol.2013.11.017]

  • Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptácek LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA and Goldstein DB.

    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    NATURE GENETICS . 44(9): 1030-1030. Nº de cites: 314

    [doi:10.1038/ng.2358]

  • Fons-Estupina C, Rizzu P, Garcia-Cazorla A, Martorell-Sampol L, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Fernández-Alvarez E.

    TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

    BRAIN & DEVELOPMENT . 34(3): 255-257. Nº de cites: 18

    [doi:10.1016/j.braindev.2011.04.007]

  • Fons-Estupina C, Campistol-Plana J, Panagiotakaki, E, Giannotta, M, Arzimanoglou A, Gobbi, G, Neville, B, Ebinger, F, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Ninan, M, Sange, G, Artuch-Iriberri R, Schyns, T, Vavassori, R and Poncelin, D.

    Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(1): 10-14. Nº de cites: 26

    [doi:10.1016/j.ejpn.2011.08.006]

  • Roche-Martinez A, Armstrong-Moron J, Gerotina E, Fons-Estupina C, Campistol-Plana J and Pineda M.

    CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain

    Journal of Pediatric Epilepsy . 1(1): 27-35.

    [doi:10.3233/PEP-2012-005]

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.

    JIMD Reports . 4: 13-16. Nº de cites: 4

    [doi:10.1007/8904_2011_41]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de cites: 6

    [doi:10.3233/JAD-2011-110647]

  • Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol-Plana J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons-Estupina C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D and Arzimanoglou A.

    Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

    BRAIN . 133(12): 3598-3610. Nº de cites: 118

    [doi:10.1093/brain/awq295]

  • García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.

    X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency

    EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Nº de cites: 9

    [doi:10.1038/ejhg.2010.118]