Silvia Dominissini

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

MG Pittis, Mariarosaria Donnarumma, A.L.E. Montalvo et al. · Human Mutation · 2008 · 54 citations · Full text

Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress

Marta Deganuto, María Gabriela Pittis, Alex Pines et al. · Journal of Cellular Physiology · 2007 · 52 citations

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (<i>GNPTG</i>) gene in patients with mucolipidosis III gamma

Emanuele Persichetti, Nadia Chuzhanova, Andrea Dardis et al. · Human Mutation · 2008 · 36 citations

Genetics, Pathology, Molecular Genetics +19

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

Andrea Dardis, Mirella Filocamo, Serena Grossi et al. · Molecular Genetics and Metabolism · 2009 · 32 citations · Full text

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

Stefania Zampieri, Emanuele Buratti, Silvia Dominissini et al. · European Journal of Human Genetics · 2010 · 30 citations · Full text

Full Spectrum, Genetic Disorder, Medicine +12