Anna Maria Nurchi

Molecular characterization of Wilson disease in the Sardinian population?Evidence of a founder effect

Georgios Loudianos, Valeria Dessì, Mario Lovicu et al. · Human Mutation · 1999 · 167 citations

Mendelian Disorder, Disease Mechanism, Genetic Disorder +15

Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983)

A. Giagheddu, Luigi Demelia, G. Puggioni et al. · Acta Neurologica Scandinavica · 2009 · 63 citations

Mean Frequency, Genetic Epidemiology, Pathology +16

Adrenal Androgens in Obese Boys before and after Weight Loss

C. Pintor, Sandro Loche, A. Faedda et al. · Hormone and Metabolic Research · 1984 · 37 citations

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

A Figus, R Lampis, Marcella Devoto et al. · Journal of Medical Genetics · 1989 · 26 citations · Full text

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

Maria-Barbara Lepori, Antonietta Zappu, Simona Incollu et al. · Molecular and Cellular Probes · 2012 · 22 citations

Mendelian Disorder, Genetic Disorder, Genetics +9