People / Staff

Jaume Campistol Plana

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Publications

  • 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. Number of citations: 333

    [doi:10.1038/ng.2358]

  • Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

    REVISTA DE NEUROLOGIA . 55(4): 200-206. Number of citations: 5

    [doi:10.33588/rn.5504.2012038]

  • Pérez-Dueñas B, Sempere A, Campistol-Plana J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR and Artuch-Iriberri R.

    Novel features in the evolution of adenylosuccinate lyase deficiency

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(4): 343-348. Number of citations: 15

    [doi:10.1016/j.ejpn.2011.08.008]

  • Garcia-Puig M, Fons-Estupina MC, Rives-Solà S, Berrueco-Moreno R, Cruz-Martínez O and Campistol-Plana J.

    Neurotoxicity due to methotrexate in paediatric patients. Description of the clinical symptoms and neuroimaging findings

    REVISTA DE NEUROLOGIA . 54(12): 712-718. Number of citations: 9

    [doi:10.33588/rn.5412.2012005]

  • Campistol-Plana J, Galvez H, Garcia-Cazorla A, Málaga I, Iriondo-Sanz M and Cusi V.

    Neurological dysfunction induced by bilirrubin

    NEUROLOGIA . 27(4): 202-211. Number of citations: 14

    [doi:10.1016/j.nrl.2010.03.013]

  • Jimenez E, Ormazabal-Herrero A, Serrano M, Ortez-Gonzalez CI, Artuch-Iriberri R, Garcia-Cazorla A and Campistol-Plana J.

    Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases

    REVISTA DE NEUROLOGIA . 54(7): 394-398. Number of citations: 4

    [doi:10.33588/rn.5407.2011454]

  • Campistol-Plana J, González MJ, Gutiérrez AP and Vilaseca MA.

    Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units

    MEDICINA CLINICA . 138(5): 185-191. Number of citations: 8

    [doi:10.1016/j.medcli.2011.03.037]

  • 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. Number of citations: 20

    [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. Number of citations: 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]