Francesca Donaudy

A Gene Network Regulating Lysosomal Biogenesis and Function

Marco Sardiello, Michela Palmieri, Alberto di Ronza et al. · Science · 2009 · 2.5K citations

Life Sciences, Cell Biology, Molecular Biology +17

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Francesca Donaudy, Rik L. Snoeckx, Markus Pfister et al. · The American Journal of Human Genetics · 2004 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

Romina Ficarella, Francesca Di Leva, Mario Bortolozzi et al. · Proceedings of the National Academy of Sciences · 2007 · 125 citations · Full text

Life Sciences, Genetics, Physiology +17

Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease

Giancarlo Parenti, A Zuppaldi, María Gabriela Pittis et al. · Molecular Therapy · 2007 · 118 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17

Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

Francesca Donaudy, Antonella Ferrara, Laura Esposito et al. · The American Journal of Human Genetics · 2003 · 105 citations · Full text

Medicine, Genetics, Molecular Genetics +15