Mirella Filocamo

Università degli Studi di Genova - Genova / Italy

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AD Scientific Index ID: 4697707

University of Genoa

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Mirella Filocamo's MOST POPULAR ARTICLES

1-) Germline mutations in HRAS proto-oncogene cause Costello syndromeY Aoki, T Niihori, H Kawame, K Kurosawa, H Ohashi, Y Tanaka, ...Nature genetics 37 (10), 1038-1040, 20056962005

2-) Lysosomal storage disorders: molecular basis and laboratory testingM Filocamo, A MorroneHuman genomics 5 (3), 1-14, 20111542011

3-) GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsA Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ...Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 20111522011

4-) Ambroxol as a pharmacological chaperone for mutant glucocerebrosidaseI Bendikov-Bar, G Maor, M Filocamo, M HorowitzBlood Cells, Molecules, and Diseases 50 (2), 141-145, 20131732013

5-) Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type IIALE Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, ...Human mutation 27 (10), 999-1006, 20061562006

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