Publicaciones
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Campistol-Plana J.
Neurological manifestations in metabolic diseases
ARQUIVOS DE NEURO-PSIQUIATRIA . 73: 59-63.
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Campistol-Plana J and Plecko B.
Treatable newborn and infant seizures due to inborn errors of metabolism
EPILEPTIC DISORDERS . 17(3): 229-242. Nº de citas: 31
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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. Nº de citas: 13
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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. Nº de citas: 213
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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. Nº de citas: 17
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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. Nº de citas: 79
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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. Nº de citas: 29
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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. Nº de citas: 25
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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. Nº de citas: 3
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Campistol-Plana J.
Convulsiones neonatales.
Revista Médica Hondureña . 82(Supl. 2): 22-27.