Valentina Dessì

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

Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH

Loredana Boccone, Stefano Mariotti, Valentina Dessì et al. · European Journal of Medical Genetics · 2010 · 41 citations

Neurodegenerative Diseases, Severe Neurologic Features, Mendelian Disorder +10

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

Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels

Loredana Boccone, Valentina Dessì, Antonella Meloni et al. · European Journal of Medical Genetics · 2013 · 28 citations

Mendelian Disorder, Genetic Disorder, Immunodeficiencies +10

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