Filocamo M - Search Results

1

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M. Biancheri R, et al. Among authors: filocamo m. Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27. Clin Genet. 2014. PMID: 23711321

2

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M. Biancheri R, et al. Among authors: filocamo m. Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669416 Free PMC article.

3

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.

Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco MG, Devescovi R, Rossi A, Uziel G, Filocamo M. Regis S, et al. Among authors: filocamo m. Clin Genet. 2008 Mar;73(3):279-87. doi: 10.1111/j.1399-0004.2007.00961.x. Epub 2007 Jan 9. Clin Genet. 2008. PMID: 18190592

4

Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.

Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M. Regis S, et al. Among authors: filocamo m. Neurogenetics. 2005 May;6(2):73-8. doi: 10.1007/s10048-005-0214-7. Epub 2005 Apr 13. Neurogenetics. 2005. PMID: 15827763

5

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.

Regis S, Grossi S, Corsolini F, Biancheri R, Filocamo M. Regis S, et al. Among authors: filocamo m. Biochim Biophys Acta. 2009 Jun;1792(6):548-54. doi: 10.1016/j.bbadis.2009.04.002. Epub 2009 Apr 17. Biochim Biophys Acta. 2009. PMID: 19376225 Free article.

6

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.

Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M. Grossi S, et al. Among authors: filocamo m. Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40. Orphanet J Rare Dis. 2011. PMID: 21679407 Free PMC article.

7

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

Regis S, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M. Regis S, et al. Among authors: filocamo m. PLoS One. 2013 Sep 3;8(9):e73633. doi: 10.1371/journal.pone.0073633. eCollection 2013. PLoS One. 2013. PMID: 24019930 Free PMC article.

8

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. Among authors: filocamo m. 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

9

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Ricci V, Regis S, Di Duca M, Filocamo M. Ricci V, et al. Among authors: filocamo m. Hum Genet. 2003 Apr;112(4):419-25. doi: 10.1007/s00439-002-0900-6. Epub 2003 Feb 11. Hum Genet. 2003. PMID: 12579417

10

AIMP1/p43 mutation and PMLD.

Biancheri R, Rossi A, Zara F, Filocamo M. Biancheri R, et al. Among authors: filocamo m. Am J Hum Genet. 2011 Mar 11;88(3):391; author reply 393-5. doi: 10.1016/j.ajhg.2011.02.003. Am J Hum Genet. 2011. PMID: 21397066 Free PMC article. No abstract available.

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