Biancheri R - Search Results

1

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: biancheri r. 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.

2

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: biancheri r. Neurogenetics. 2005 May;6(2):73-8. doi: 10.1007/s10048-005-0214-7. Epub 2005 Apr 13. Neurogenetics. 2005. PMID: 15827763

3

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: biancheri r. 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.

4

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M. Tappino B, et al. Among authors: biancheri r. Hum Mutat. 2010 Dec;31(12):E1894-914. doi: 10.1002/humu.21367. Hum Mutat. 2010. PMID: 20886637 Free PMC article.

5

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: biancheri r. 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

6

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.

Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M. Grossi S, et al. Among authors: biancheri r. Hum Mutat. 2008 Nov;29(11):E220-30. doi: 10.1002/humu.20851. Hum Mutat. 2008. PMID: 18693274

7

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. Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27. Clin Genet. 2014. PMID: 23711321

8

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. 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.

9

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A. Santorelli FM, et al. Among authors: biancheri r. Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19. Orphanet J Rare Dis. 2013. PMID: 23374165 Free PMC article.

10

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Ricci V, Stroppiano M, Corsolini F, Di Rocco M, Parenti G, Regis S, Grossi S, Biancheri R, Mazzotti R, Filocamo M. Ricci V, et al. Among authors: biancheri r. Hum Mutat. 2004 Jul;24(1):105. doi: 10.1002/humu.9258. Hum Mutat. 2004. PMID: 15221801

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