Federica Lanza

Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini et al. · Open Journal of Bioresources · 2014 · 55 citations · Full text

Life Sciences, Biology, Genetics +8

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

Roberta Biancheri, Camillo Rosano, Laura Denegri et al. · European Journal of Human Genetics · 2012 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

Irene Motta, Dario Consonni, Marina Stroppiano et al. · Scientific Reports · 2021 · 26 citations · Full text

Medicine, Endocrinology, Hematology +17

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

Nicola Bedoni, Mathieu Quinodoz, Michele Pinelli et al. · Human Molecular Genetics · 2020 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients

Marina Stroppiano, Maria Grazia Calevo, Fabio Corsolini et al. · Clinical Biochemistry · 2014 · 18 citations

Life Sciences, Biochemistry, Food Authentication +10