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Publications

  • 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. Number of citations: 40

    [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. Number of citations: 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. Number of citations: 1

    [doi:10.33588/rn.5603.2012408]

  • Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.

    Hypotonia in the neonatal period: 12 years' experience

    REVISTA DE NEUROLOGIA . 56(2): 72-78. Number of citations: 5

    [doi:10.33588/rn.5602.2012339]

  • Campistol-Plana J.

    Guidelines for detection of inborn errors of metabolism based on clinical exam, analytical studies and neuroimaging techniques

    MEDICINA-BUENOS AIRES . 73: 55-62. Number of citations: 1

  • Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento-Osorio A, Colomer J, Campistol-Plana J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P and Ribes A.

    Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

    MOLECULAR GENETICS AND METABOLISM . 107(3): 409-415. Number of citations: 37

    [doi:10.1016/j.ymgme.2012.08.018]

  • 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: 314

    [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: 3

    [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]