Persones / Equip Humà

Jaume Campistol Plana

Buscador de publicacions

Publicacions

  • Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D, SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL and Lapunzina P.

    A New Overgrowth Syndrome is due to Mutations in RNF125

    HUMAN MUTATION . 35(12): 1436-1441. Nº de cites: 35

    [doi:10.1002/humu.22689]

  • Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol-Plana J, Burlina AB, Burgard P and Kölker S.

    Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 37(5): 763-773. Nº de cites: 28

    [doi:10.1007/s10545-014-9676-9]

  • Ulate-Campos A, Fons-Estupina C, Campistol-Plana J, Martorell-Sampol L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A and Velázquez R.

    Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients

    MEDICINA CLINICA . 143(1): 25-28. Nº de cites: 3

    [doi:10.1016/j.medcli.2014.01.036]

  • Campistol-Plana J.

    Convulsiones neonatales.

    Revista Médica Hondureña . 82(Supl. 2): 22-27.

  • Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B and ATP1A3 Working Group.

    Distinct neurological disorders with ATP1A3 mutations

    LANCET NEUROLOGY . 13(5): 503-514. Nº de cites: 189

    [doi:10.1016/S1474-4422(14)70011-0]

  • 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]

  • Caurín B, Serrano M, Fernández-Alvarez E, Campistol-Plana J and Pérez-Dueñas B.

    Environmental circumstances influencing tic expression in children

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 18(2): 157-162. Nº de cites: 22

    [doi:10.1016/j.ejpn.2013.10.002]

  • Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol-Plana J, Martorell-Sampol L, Ruiz-Falcó M, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J and Molano J.

    PLP1 gene analysis in 88 patients with leukodystrophy

    CLINICAL GENETICS . 84(6): 566-571. Nº de cites: 9

    [doi:10.1111/cge.12103]

  • Huijbregts SC, Gassió-Subirachs R and Campistol-Plana J.

    Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria

    MOLECULAR GENETICS AND METABOLISM . 110(S): 25-30. Nº de cites: 23

    [doi:10.1016/j.ymgme.2013.10.001]

  • Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, Del Toro M, Garcia-Cazorla A, Campistol-Plana J, Briones P, Ribes A and Tort F.

    Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 36(5): 841-847. Nº de cites: 35

    [doi:10.1007/s10545-012-9565-z]