Persones / Equip Humà

Jaume Campistol Plana

Buscador de publicacions

Publicacions

  • Balestrini S, Mikati MA, Garcia-Roves RA, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol-Plana J, Fons-Estupina C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dziezyc K, Parowicz M, Mazurkiewicz-Beldzinska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP and Sisodiya SM.

    Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study

    Neurology . 95(21): 2866-2879. Nº de cites: 18

    [doi:10.1212/WNL.0000000000010794]

  • MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ.

    PKU dietary handbook to accompany PKU guidelines

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 171-171. Nº de cites: 77

    [doi:10.1186/s13023-020-01391-y]

  • Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol-Plana J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, SOGRI Consortium and Lapunzina P.

    Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    EUROPEAN JOURNAL OF HUMAN GENETICS . 28(4): 469-479. Nº de cites: 19

    [doi:10.1038/s41431-019-0485-3]

  • Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol-Plana J, Artuch-Iriberri R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A and Pérez B.

    Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    HUMAN MUTATION . 41(7): 1329-1338. Nº de cites: 20

    [doi:10.1002/humu.24026]

  • Gassió-Subirachs R, González MJ, Sans-Capdevila O, Artuch-Iriberri R, Sierra-March C, Ormazabal-Herrero A, Cuadras-Palleja D and Campistol-Plana J.

    Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(5): 685-691. Nº de cites: 4

    [doi:10.1016/j.ejpn.2019.08.005]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

    SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de cites: 9

    [doi:10.1038/s41598-019-48385-w]

  • Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.

    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    CLINICAL GENETICS . 95(6): 726-731. Nº de cites: 9

    [doi:10.1111/cge.13504]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 26

    [doi:10.1038/s41598-018-37542-2]

  • Campistol-Plana J.

    Epilepsies of metabolic origin in the neonate

    MEDICINA-BUENOS AIRES . 79: 20-24.

  • Campistol-Plana J.

    Fenilcetonuria de diagnóstico precoz. Bases fisiopatológicas del daño neuronal y opciones terapéuticas.

    MEDICINA-BUENOS AIRES . 79 Suppl 3: 2-5. Nº de cites: 4