Personas / Equipo Humano

Jaume Campistol Plana

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 17

    [doi:10.1016/j.braindev.2011.04.007]

  • 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]

  • Fons-Estupina C, Campistol-Plana J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová 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. Nº de citas: 18

    [doi:10.1016/j.ejpn.2011.08.006]

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

    JIMD Reports . 4: 13-16. Nº de citas: 4

    [doi:10.1007/8904_2011_41]

  • Rubí S, Setoain X, Donaire A, Bargalló N, Sanmartí F, Carreño M, Rumià J, Calvo A, Aparicio J, Campistol-Plana J and Pons F.

    Validation of FDG-PET/MRI coregistration in nonlesional refractory childhood epilepsy

    Epilepsia . 52(12): 2216-2224. Nº de citas: 48

    [doi:10.1111/j.1528-1167.2011.03295.x]

  • Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol-Plana J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A and Lill R.

    A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

    AMERICAN JOURNAL OF HUMAN GENETICS . 89(5): 656-667. Nº de citas: 247

    [doi:10.1016/j.ajhg.2011.10.005]

  • Fasheh W, Pino R, Campistol-Plana J and Pineda M.

    Benign Afebrile Convulsions in the Course of Mild Acute Gastroenteritis A Study of 28 Patients and a Literature Review

    PEDIATRIC EMERGENCY CARE . 27(11): 1062-1064. Nº de citas: 15

    [doi:10.1097/PEC.0b013e31823b45b3]

  • Ramírez-Camacho A, Meavilla S, Catalán N, Gutiérrez A and Campistol-Plana J.

    Experience with ketogenic diet as treatment for refractory epilepsy

    REVISTA DE NEUROLOGIA . 53(9): 524-530. Nº de citas: 7

    [doi:10.33588/rn.5309.2011062]

  • Couce ML, Pérez-Cerdá C, García Silva MT, Garcia-Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol-Plana J, Fraga JM, Pérez B and Ugarte M.

    Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease

    MEDICINA CLINICA . 137(11): 500-503. Nº de citas: 8

    [doi:10.1016/j.medcli.2011.01.018]

  • Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.

    Hypokinetic-rigid syndrome in children and inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Nº de citas: 10

    [doi:10.1016/j.ejpn.2011.04.013]