Mirella Filocamo
Istituto Giannina Gaslini(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Carbohydrate Chemistry and Synthesis, Trypanosoma species research and implications, Glycosylation and Glycoproteins Research
Most-Cited Works
- → Germline mutations in HRAS proto-oncogene cause Costello syndrome(2005)668 cited
- → Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes(2010)171 cited
- → GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings(2011)156 cited
- → Lysosomal storage disorders: Molecular basis and laboratory testing(2011)144 cited
- → Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase(2012)141 cited
- → Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy(2015)138 cited
- → Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II