Rodríguez de Cordoba S, Esparza Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M and Sánchez-Corral P.
[2004]. The human complement factor H: functional roles, genetic variations and disease associations. Mol. Immunol. 41:355-367.
Fernández-Sánchez ME, Criado-García O, Heath KE, García-Fojeda B, Medraño-Fernández I, Gomez-Garre P, Sanz P, Serratosa JM and Rodríguez de Córdoba S.
[2003]. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Hum Mol Genet 12:3161-3171.
Sánchez-Corral P, Pérez-Caballero D, Huarte O, Simckes AM, Goicoechea E, Lopez-Trascasa M and Rodríguez de Córdoba S.
[2002]. Structural and functional characterization of factor H mutations associated with atypical Hemolytic Uremic Syndrome. Am. J. Human Genet. 71:1285-1295.
Gallardo, M E, Desviat L.R. Rodríguez J.M. Esparza, J.. Pérez-Cerdá, C. Pérez, B. Rodríguez-Pombo, P. Navarrete, R. Sanz, Criado O, R. Ribes, A. Gibson M. S. Rodriguez de Cordoba, Ugarte M. and Penalva M.A.
[2001]. The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolism. Am. J. Human Genet. 68:334-346.
Pérez-Caballero D, Gonzalez Rubio C, Gallardo ME, Vera M, Lopez-Trascasa M, Rodríguez de Córdoba S and Sánchez-Corral P.
[2001]. Clustering of missense mutations in the C-terminal region of factor H in atypical Hemolytic Uremic Syndrome. Am. J. Human Genet. 68:478-484.
Titus GP, Mueller HA, Rodríguez de Córdoba S, Peñalva MA and Timm DA.
[2000]. Crystal structure of human homogentisate dioxygenase. Nat. Struct. Biol. 7:542-546.
Rodríguez JM, Timm DE, Titus GP, Beltrán-Valero de Bernabé D, Criado O, Mueller HA, Rodríguez de Córdoba S and Peñalva MA
[2000]. Structural and functional analysis of mutations in alkaptonuria. Hum Mol Genet 22:2341-2350.
Gallardo E, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P and Rodríguez de Córdoba S.
[1999]. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics 61: 82-91.
Serratosa JM, Gómez-Garre P, Gallardo ME, Berta Anta B, Beltrán-Valero de Bernabé D, Lindhout D, Tassinari CA, Michelucci R, Malafosse A, Topcu M, Grid D, Dravet C, Berkovic SF and Rodríguez de Córdoba S.
[1999]. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum. Mol. Genet. 8:345-352.
Beltrán-Valero de Bernabé D, Jimenez J, Aquaron R and Rodríguez de Córdoba S.
[1999]. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutation hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am. J. Human Genet. 64:1316-22.
Beltrán-Valero de Bernabé D, Granadino B, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJM, Sanmarti R, Peñalva MA and Rodríguez de Córdoba S.
[1998]. Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients. Am. J. Human. Genet. 62:776-784
