Uziel G - Search Results

1

Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy.

Gomez-Lira M, Marzari MG, Uziel G, Pignatti P, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: uziel g. J Neuroimmunol. 2000 Nov 1;111(1-2):245-7. doi: 10.1016/s0165-5728(00)00367-2. J Neuroimmunol. 2000. PMID: 11063846

2

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

Lira MG, Mottes M, Pignatti PF, Medica I, Uziel G, Cappa M, Bertini E, Rizzuto N, Salviati A. Lira MG, et al. Among authors: uziel g. Hum Mutat. 2000 Sep;16(3):271. doi: 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10980539

3

Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Uziel G, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: uziel g. J Neurol Sci. 1999 May 1;165(1):62-5. doi: 10.1016/s0022-510x(99)00074-x. J Neurol Sci. 1999. PMID: 10426149

4

X-linked adrenoleukodystrophy: first report of the Italian Study Group.

Di Biase A, Salvati S, Avellino C, Cappa M, Bertini E, Moroni I, Rimoldi M, Uziel G. Di Biase A, et al. Among authors: uziel g. Ital J Neurol Sci. 1998 Oct;19(5):315-9. doi: 10.1007/BF00713859. Ital J Neurol Sci. 1998. PMID: 10933453

5

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: uziel g. 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

6

Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.

Notarangelo LD, Parolini O, Baiguini G, Buzi F, Paterlini C, Perini A, Rimoldi M, Tiberti S, Uziel G, Notarangelo L, et al. Notarangelo LD, et al. Among authors: uziel g. Eur J Pediatr. 1992 Oct;151(10):761-3. doi: 10.1007/BF01959086. Eur J Pediatr. 1992. PMID: 1425799

7

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G. Salsano E, et al. Among authors: uziel g. Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10. Orphanet J Rare Dis. 2012. PMID: 22280810 Free PMC article.

8

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S. Venturi N, et al. Among authors: uziel g. Hum Mutat. 2002 Sep;20(3):231. doi: 10.1002/humu.9051. Hum Mutat. 2002. PMID: 12203999

9

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.

10

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: uziel g. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

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