Personas / Equipo Humano

Jaume Campistol Plana

Buscador de publicaciones

Publicaciones

  • 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 citas: 181

    [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 citas: 28

    [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 citas: 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 citas: 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 citas: 22

    [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 citas: 35

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

  • van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol-Plana J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM and Salomons GS.

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    JOURNAL OF MEDICAL GENETICS . 50(7): 463-472. Nº de citas: 88

    [doi:10.1136/jmedgenet-2013-101658]

  • Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Nº de citas: 37

    [doi:10.1111/dmcn.12116]

  • Donaire A, Capdevila A, Carreño M, Setoain X, Rumià J, Aparicio J, Campistol-Plana J, Padilla N, Sanmartí F, Vernet O, Pintor L, Boget T, Ortells J and Bargalló N.

    Identifying the cortical substrates of interictal epileptiform activity in patients with extratemporal epilepsy: An EEG-fMRI sequential analysis and FDG-PET study

    Epilepsia . 54(4): 678-690. Nº de citas: 16

    [doi:10.1111/epi.12091]

  • Darling A, Poo P, Pérez-Dueñas B and Campistol-Plana J.

    Medication-related oculogyric crises: a description of four cases and a review of the literature

    REVISTA DE NEUROLOGIA . 56(3): 152-156. Nº de citas: 1

    [doi:10.33588/rn.5603.2012408]