People / Staff

Jaume Campistol Plana

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Publications

  • Campistol-Plana J.

    Neurological manifestations in metabolic diseases

    ARQUIVOS DE NEURO-PSIQUIATRIA . 73: 59-63.

  • Campistol-Plana J and Plecko B.

    Treatable newborn and infant seizures due to inborn errors of metabolism

    EPILEPTIC DISORDERS . 17(3): 229-242. Number of citations: 31

    [doi:10.1684/epd.2015.0754]

  • Vallejo-Torres L, Castilla I, Couce ML, Pérez-Cerdá C, Martín-Hernández E, Pineda M, Campistol-Plana J, Arrospide A, Morris S and Serrano-Aguilar P.

    Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

    Pediatrics . 136(2): 424-432. Number of citations: 13

    [doi:10.1542/peds.2014-3399]

  • Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.

    Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

    Cell . 161(3): 459-469. Number of citations: 214

    [doi:10.1016/j.cell.2015.03.051]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Number of citations: 17

    [doi:10.3389/fgene.2015.00102]

  • Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol-Plana J, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton-Lopez J, Iglesias-Jimenez E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R and Aróstegui JI.

    Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

    ANNALS OF THE RHEUMATIC DISEASES . 74(3): 603-610. Number of citations: 79

    [doi:10.1136/annrheumdis-2013-204361]

  • Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D, SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL and Lapunzina P.

    A New Overgrowth Syndrome is due to Mutations in RNF125

    HUMAN MUTATION . 35(12): 1436-1441. Number of citations: 31

    [doi:10.1002/humu.22689]

  • Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol-Plana J, Burlina AB, Burgard P and Kölker S.

    Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 37(5): 763-773. Number of citations: 25

    [doi:10.1007/s10545-014-9676-9]

  • Ulate-Campos A, Fons-Estupina C, Campistol-Plana J, Martorell-Sampol L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A and Velázquez R.

    Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients

    MEDICINA CLINICA . 143(1): 25-28. Number of citations: 3

    [doi:10.1016/j.medcli.2014.01.036]

  • Campistol-Plana J.

    Convulsiones neonatales.

    Revista Médica Hondureña . 82(Supl. 2): 22-27.