Mirella Filocamo

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame et al. · Nature Genetics · 2005 · 664 citations

Genetic Disorder, Genetics, Pathogenesis +4

Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes

Eusebio Chiefari, Stefania Iiritano, Francesco Paonessa et al. · Nature Communications · 2010 · 171 citations · Full text

Insulin Resistance, Metabolic Syndrome, Insulin Signaling +10

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 151 citations · Full text

Genetics, Genetic Epidemiology, Immunology +7

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

Inna Bendikov-Bar, Gali Maor, Mirella Filocamo et al. · Blood Cells Molecules and Diseases · 2012 · 141 citations · Full text

Bioorganic Chemistry, Cellular Enzymology, Biochemistry +7

Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II

A.L.E. Montalvo, Bruno Bembi, Mariarosaria Donnarumma et al. · Human Mutation · 2006 · 126 citations