Publicaciones en colaboración con investigadoras/es de University of Messina (6)

2022

  1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2009

  1. Expanding CEP290 mutational spectrumin ciliopathies

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 10, pp. 2173-2180

  2. MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

    Human Mutation, Vol. 30, Núm. 2, pp. E432-E442

2008

  1. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

    Clinical Genetics, Vol. 74, Núm. 2, pp. 164-170

2007

  1. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

    American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113