Mirella Filocamo - Concepedia

Author

Mirella Filocamo

Also Known As

A M Marmont, Barbara Garavaglia, Elena Bravo, G. Mariani, M FILOCAMO, M Filocamo, M. D. Cappellini, M. FILOCAMO, M. Filocamo, M.T. Filocamo

208

Publications

6.5K

Citations

H-Index

165

Concepts

All Affiliations

Istituto Giannina Gaslini Istituti di Ricovero e Cura a Carattere Scientifico IRCCS Materno Infantile Burlo Garofolo University of Naples Federico II Fondazione IRCCS Istituto Neurologico Carlo Besta

About

Mirella Filocamo is an author at Istituto Giannina Gaslini specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	33	74	3.5K
2	Engineering	6	6	258
3	Health Sciences	3	3	269
4	Business	1	1	18
5	Management	1	1	18

Mirella Filocamo

131

Publications

5.7K

Citations

H-Index

Page 1

	Year	Citations
Germline mutations in HRAS proto-oncogene cause Costello syndrome Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame, Nature Genetics Genetic DisorderGeneticsPathogenesisPathologyMolecular Genetics	2005	664
Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes Eusebio Chiefari, Stefania Iiritano, Francesco Paonessa, Nature Communications Insulin ResistanceMetabolic SyndromeInsulin SignalingPseudogene-mediated Posttranscriptional SilencingDiabetes	2010	171
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease GeneticsGenetic EpidemiologyImmunologyPathologyMorquio B Disease	2011	151
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase Inna Bendikov-Bar, Gali Maor, Mirella Filocamo, Blood Cells Molecules and Diseases Bioorganic ChemistryCellular EnzymologyBiochemistryMedicineNatural Sciences	2012	141
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, Human Mutation	2006	126
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease Giancarlo Parenti, A Zuppaldi, María Gabriela Pittis, Molecular Therapy	2007	118
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease Barbara Tappino, Roberta Biancheri, Matthew Mort, Human Mutation Molecular Diagnostic TechniquesSomatic VariantMendelian DisorderGenetic DisorderMedicine	2010	116
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant Inna Bendikov-Bar, Idit Ron, Mirella Filocamo, Blood Cells Molecules and Diseases BiosynthesisCellular EnzymologyBiochemistryNatural SciencesGlycobiology	2010	112
Unfolded protein response in Gaucher disease: from human to Drosophila Gali Maor, Sigal Rencus‐Lazar, Mirella Filocamo, Orphanet Journal of Rare Diseases	2013	111
Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease Tommaso Fasano, Livia Pisciotta, Letizia Bocchi, Molecular Genetics and Metabolism BiochemistryPathologyLipoprotein MetabolismEleven PatientsLysosomal Lipase Deficiency	2011	97

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