Publications
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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. Number of citations: 77
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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. Number of citations: 20
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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. Number of citations: 19
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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. Number of citations: 4
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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. Number of citations: 9
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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. Number of citations: 9
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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. Number of citations: 26
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Campistol-Plana J.
Epilepsies of metabolic origin in the neonate
MEDICINA-BUENOS AIRES . 79: 20-24.
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Campistol-Plana J.
Fenilcetonuria de diagnóstico precoz. Bases fisiopatológicas del daño neuronal y opciones terapéuticas.
MEDICINA-BUENOS AIRES . 79 Suppl 3: 2-5. Number of citations: 4
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Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.
Epilepsy in children with congenital hemiparesis secondary to perinatal ictus
MEDICINA-BUENOS AIRES . 79(s3): 6-9.