Mirella Filocamo
Mirella Filocamo
G. Gaslini Institute, Genova, Italy
Verifierad e-postadress på gaslini.org
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Germline mutations in HRAS proto-oncogene cause Costello syndrome
Y Aoki, T Niihori, H Kawame, K Kurosawa, H Ohashi, Y Tanaka, ...
Nature genetics 37 (10), 1038-1040, 2005
6382005
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II
ALE Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, ...
Human mutation 27 (10), 999-1006, 2006
1372006
Pharmacological enhancement of mutated α-glucosidase activity in fibroblasts from patients with Pompe disease
G Parenti, A Zuppaldi, MG Pittis, MR Tuzzi, I Annunziata, G Meroni, ...
Molecular Therapy 15 (3), 508-514, 2007
1352007
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
A Caciotti, SC Garman, Y Rivera-Colķn, E Procopio, S Catarzi, L Ferri, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011
1342011
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
I Bendikov-Bar, G Maor, M Filocamo, M Horowitz
Blood Cells, Molecules, and Diseases 50 (2), 141-145, 2013
1242013
Lysosomal storage disorders: molecular basis and laboratory testing
M Filocamo, A Morrone
Human genomics 5 (3), 1-14, 2011
1242011
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ...
Human mutation 31 (12), E1894-E1914, 2010
1062010
Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes
BA Chiefari E, Iiritano S, Paonessa F, Le Pera I
Nature Communications, 1, 2010
1022010
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
I Bendikov-Bar, I Ron, M Filocamo, M Horowitz
Blood Cells, Molecules, and Diseases 46 (1), 4-10, 2011
972011
Unfolded protein response in Gaucher disease: from human to Drosophila
G Maor, S Rencus-Lazar, M Filocamo, H Steller, D Segal, M Horowitz
Orphanet journal of rare diseases 8 (1), 1-14, 2013
912013
Functional variants of the HMGA1 gene and type 2 diabetes mellitus
E Chiefari, S Tanyolaš, F Paonessa, CR Pullinger, C Capula, S Iiritano, ...
Jama 305 (9), 903-912, 2011
892011
The role of a bioresource research impact factor as an incentive to share human bioresources
TGA Cambon-Thomsen A, ML Named collaborators, Andrieu S, Bertier G
Nature Genetics 43, 503, 2011
852011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α‐L‐iduronidase (IDUA) alleles
F Bertola, M Filocamo, G Casati, M Mort, C Rosano, A Tylki‐Szymanska, ...
Human mutation 32 (6), E2189-E2210, 2011
822011
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
MP Cosma, S Pepe, G Parenti, C Settembre, I Annunziata, ...
Human mutation 23 (6), 576-581, 2004
732004
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy
R Boldrini, R Devito, R Biselli, M Filocamo, C Bosman
Pathology-Research and Practice 200 (3), 231-240, 2004
722004
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
T Fasano, L Pisciotta, L Bocchi, O Guardamagna, P Assandro, ...
Molecular genetics and metabolism 105 (3), 450-456, 2012
702012
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
M Cesani, L Lorioli, S Grossi, G Amico, F Fumagalli, I Spiga, M Filocamo, ...
Human mutation 37 (1), 16-27, 2016
692016
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis
M Donnarumma, S Regis, B Tappino, C Rosano, S Assereto, F Corsolini, ...
Human mutation 28 (5), 524-524, 2007
692007
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)
C Bruno, E Bertini, A Federico, E Tonoli, ML Lispi, D Cassandrini, ...
Neurology 62 (1), 13-16, 2004
612004
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
M Mora, C Angelini, F Bignami, AM Bodin, M Crimi, JH Di Donato, ...
European Journal of Human Genetics 23 (9), 1116-1123, 2015
592015
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Artiklar 1–20