Francesca Manzoni

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality

Felice Amato, Paolo Scudieri, Ilaria Musante et al. · Human Mutation · 2019 · 44 citations

Genetics, Molecular Biology, Gene Characterization +17

Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa.

Gianluca Tadini, Sophie Guez, Lidia Pezzani et al. · PubMed · 2015 · 34 citations

Dystrophic Epidermolysis Bullosa, Scleroderma, Preliminary Evaluation +14

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni et al. · Pediatric Neurology · 2019 · 34 citations

Mendelian Disorder, Genetic Disorder, Degenerative Disease +5

Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes

Vanna Micheli, S Sestini, Marina Rocchigiani et al. · Life Sciences · 1999 · 32 citations

Biosynthesis, Hypoxanthine-guanine Phosphoribosyltransferase Deficiency, Biochemistry +2

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency

Valentina Rovelli, Francesca Manzoni, Krista Viau et al. · Molecular Genetics and Metabolism · 2019 · 31 citations

Metabolic Syndrome, Aldehyde Dehydrogenase, Metabolic Disorder +5