Publicaciones en colaboración con investigadores/as de Instituto de Biomedicina de Valencia (6)

2011

  1. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714

2008

  1. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

    Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952

2006

  1. Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

    Epilepsy Research, Vol. 70, Núm. 2-3, pp. 118-126

2003

  1. Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

    Epilepsia, Vol. 44, Núm. 10, pp. 1289-1297

2002

  1. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia

    Gene, Vol. 282, Núm. 1-2, pp. 87-94

  2. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

    Human Molecular Genetics, Vol. 11, Núm. 9, pp. 1119-1128