Maria Barbara Lepori

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Antonietta Zappu, Magli Olympia, Maria Barbara Lepori et al. · Journal of Pediatric Gastroenterology and Nutrition · 2008 · 47 citations

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci et al. · European Journal of Human Genetics · 2013 · 47 citations · Full text

Allelic Variant, Haplotype Determination, Genotype-phenotype Association +13

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease

Mario Lovicu, Valeria Dessì, Maria Barbara Lepori et al. · Journal of Gastroenterology · 2006 · 35 citations

Bioactive Metal, Genetics, Pathogenesis +4

Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin

Maria Barbara Lepori, Mario Lovicu, Valentina Dessì et al. · Genetic Testing · 2007 · 31 citations

Genetics, Pathology, Molecular Biology +16

Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene

Eva Mameli, Maria Barbara Lepori, Francesca Chiappe et al. · Gene · 2015 · 16 citations

Alu Exonization, Genetic Disorder, Natural Sciences +12