People / Staff

Jaume Campistol Plana

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Publications

  • Campistol-Plana J.

    Epilepsia o trastorno neurológico funcional. Estrategias para el diagnóstico.

    MEDICINA-BUENOS AIRES . 84 Suppl 3: 69-74.

  • Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.

    Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

    MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511.

    [doi:10.1016/j.ymgme.2024.108511]

  • Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, Carlos Valera Dávila, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A, Bayés A and Alonso-Colmenero I.

    Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

    Frontiers in Cell and Developmental Biology . 12: 1321282-1321282. Number of citations: 3

    [doi:10.3389/fcell.2024.1321282]

  • Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.

    Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants

    CLINICAL GENETICS . 105(3): 340-342.

    [doi:10.1111/cge.14454]

  • Campistol-Plana J.

    Inborn errors of metabolism. Advances in diagnosis and therapeutic

    MEDICINA-BUENOS AIRES . 83: 3-8.

  • Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.

    Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

    Nutrients . 15(15): . Number of citations: 2

    [doi:10.3390/nu15153475]

  • De Giorgi A, Nardecchia F, Manti F, Campistol-Plana J and Leuzzi V.

    Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review

    MOLECULAR GENETICS AND METABOLISM . 139(2): 107588-107588. Number of citations: 4

    [doi:10.1016/j.ymgme.2023.107588]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Number of citations: 5

    [doi:10.1111/bpa.13134]

  • Chávez López EK, Aparicio J, Carlos Valera Dávila, Campistol-Plana J, Ramírez-Camacho A, Fons-Estupina C and Arzimanoglou A.

    Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 41: 55-62.

    [doi:10.1016/j.ejpn.2022.10.001]

  • Campistol-Plana J.

    Paroxysmal events that are confused with epilepsy

    MEDICINA-BUENOS AIRES . 82: 19-24.