GTF04002/TI_/Telethon/Italy[Grants and Funding] - Search Results

Year	Number of Results
2005	9
2006	8
2007	5
2008	4
2009	1
2025	0

1

Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.

Foti D, Chiefari E, Fedele M, Iuliano R, Brunetti L, Paonessa F, Manfioletti G, Barbetti F, Brunetti A, Croce CM, Fusco A, Brunetti A. Foti D, et al. Nat Med. 2005 Jul;11(7):765-73. doi: 10.1038/nm1254. Epub 2005 May 29. Nat Med. 2005. PMID: 15924147

2

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Aoki Y, et al. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170316

3

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839

4

Neurodegeneration associated with genetic defects in phospholipase A(2).

Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ. Gregory A, et al. Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17. Neurology. 2008. PMID: 18799783 Free PMC article.

5

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682

6

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. 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

7

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Vega H, et al. Nat Genet. 2005 May;37(5):468-70. doi: 10.1038/ng1548. Epub 2005 Apr 10. Nat Genet. 2005. PMID: 15821733

8

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

9

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M. Lualdi S, et al. Biochim Biophys Acta. 2006 Apr;1762(4):478-84. doi: 10.1016/j.bbadis.2006.01.003. Epub 2006 Feb 9. Biochim Biophys Acta. 2006. PMID: 16495038 Free article.

10

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. 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

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