Personas / Equipo Humano

Jaume Campistol Plana

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 28

    [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. Nº de citas: 302

    [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. Nº de citas: 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. Nº de citas: 14

    [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. Nº de citas: 7

    [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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 8

    [doi:10.1016/j.medcli.2011.03.037]