Filocamo M - Search Results

1

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S. Fasano T, et al. Among authors: filocamo m. Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17. Mol Genet Metab. 2012. PMID: 22227072

2

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, Pinotti E, Corsolini F, Fecarotta S, D'Amico A, Di Rocco M, Uziel G, Calandra S, Bembi B, Filocamo M. Fancello T, et al. Among authors: filocamo m. Neurogenetics. 2009 Jul;10(3):229-39. doi: 10.1007/s10048-009-0175-3. Epub 2009 Feb 28. Neurogenetics. 2009. PMID: 19252935

3

Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.

Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C. Boldrini R, et al. Among authors: filocamo m. Pathol Res Pract. 2004;200(3):231-40. doi: 10.1016/j.prp.2003.11.001. Pathol Res Pract. 2004. PMID: 15200275

4

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.

Tappino B, Regis S, Corsolini F, Filocamo M. Tappino B, et al. Among authors: filocamo m. Mol Genet Metab. 2008 Feb;93(2):129-33. doi: 10.1016/j.ymgme.2007.09.010. Epub 2007 Oct 26. Mol Genet Metab. 2008. PMID: 17964840

5

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Beesley CE, Concolino D, Filocamo M, Winchester BG, Strisciuglio P. Beesley CE, et al. Among authors: filocamo m. Mol Genet Metab. 2007 Jan;90(1):77-80. doi: 10.1016/j.ymgme.2006.07.014. Epub 2006 Sep 20. Mol Genet Metab. 2007. PMID: 16990043

6

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Tessitore A, Villani GR, Di Domenico C, Filocamo M, Gatti R, Di Natale P. Tessitore A, et al. Among authors: filocamo m. Hum Genet. 2000 Dec;107(6):568-76. doi: 10.1007/s004390000429. Hum Genet. 2000. PMID: 11153910

7

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

Dardis A, Filocamo M, Grossi S, Ciana G, Franceschetti S, Dominissini S, Rubboli G, Di Rocco M, Bembi B. Dardis A, et al. Among authors: filocamo m. Mol Genet Metab. 2009 Aug;97(4):309-11. doi: 10.1016/j.ymgme.2009.04.011. Epub 2009 May 3. Mol Genet Metab. 2009. PMID: 19454373

8

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Zampetti A, Fania L, Antuzzi D, Giurdanella F, Gnarra M, Bertola F, Lualdi S, Filocamo M, Morrone A, Feliciani C. Zampetti A, et al. Among authors: filocamo m. Clin Genet. 2013 Sep;84(3):281-5. doi: 10.1111/cge.12071. Epub 2012 Dec 28. Clin Genet. 2013. PMID: 23210910

9

Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

Porta F, Pagliardini V, Barbera C, Calvo P, Pagliardini S, Lualdi S, Filocamo M, Spada M. Porta F, et al. Among authors: filocamo m. Mol Genet Metab. 2013 Jan;108(1):106. doi: 10.1016/j.ymgme.2012.11.004. Epub 2012 Nov 16. Mol Genet Metab. 2013. PMID: 23228552 No abstract available.

10

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).

Stroppiano M, Bonuccelli G, Corsolini F, Filocamo M. Stroppiano M, et al. Among authors: filocamo m. Am J Med Genet. 2001 Jun 1;101(1):55-8. doi: 10.1002/ajmg.1310. Am J Med Genet. 2001. PMID: 11343339

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