Elisa Scala

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Francesca Mari, Sara Azimonti, Ilaria Bertani et al. · Human Molecular Genetics · 2005 · 317 citations · Full text

Early-onset Seizure Variant, Rett Syndrome, Genetics +18

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Chiara Pescucci, Francesca Mari, Ilaria Longo et al. · Kidney International · 2004 · 150 citations

Autosomal-dominant Alport Syndrome, Mendelian Disorder, Autoimmune Disease +9

<i>MECP2</i> deletions and genotype–phenotype correlation in Rett syndrome

Elisa Scala, Ilaria Longo, Federica Ottimo et al. · American Journal of Medical Genetics Part A · 2007 · 52 citations

Developmental Biology, Mendelian Disorder, Mecp2 Deletions +12

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Ilaria Longo, Elisa Scala, Francesca Mari et al. · Nephrology Dialysis Transplantation · 2005 · 50 citations

Italian Rett database and biobank

Katia Sampieri, Ilaria Meloni, Elisa Scala et al. · Human Mutation · 2006 · 32 citations · Full text

Rett Syndrome, Genetics, Genetic Epidemiology +20