Uziel G - Search Results

1

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

2

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Moroni I, et al. Among authors: uziel g. Neurol Sci. 2000 Apr;21(2):103-8. doi: 10.1007/s100720070104. Neurol Sci. 2000. PMID: 10938189

3

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S. Mariotti C, et al. Among authors: uziel g. Neurol Sci. 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. Neurol Sci. 2004. PMID: 15300460

4

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Uziel G, et al. Dev Neurosci. 1991;13(4-5):274-9. doi: 10.1159/000112173. Dev Neurosci. 1991. PMID: 1817033 Clinical Trial.

5

A new therapeutic approach for X-linked adrenoleukodystrophy.

Cappa M, Bertini E, Di Capua M, Rimoldi M, Uziel G. Cappa M, et al. Among authors: uziel g. Eur J Pediatr. 1990 May;149(8):595-6. doi: 10.1007/BF01957704. Eur J Pediatr. 1990. PMID: 2347360 No abstract available.

6

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

7

New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts.

Petroni A, Cappa M, Blasevich M, Solinas M, Uziel G. Petroni A, et al. Among authors: uziel g. Neurosci Lett. 2004 Sep 9;367(3):269-72. doi: 10.1016/j.neulet.2004.05.115. Neurosci Lett. 2004. PMID: 15337247

8

Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.

Petroni A, Cappa M, Carissimi R, Blasevich M, Uziel G. Petroni A, et al. Among authors: uziel g. J Inherit Metab Dis. 2007 Oct;30(5):828. doi: 10.1007/s10545-007-0591-1. Epub 2007 Jul 3. J Inherit Metab Dis. 2007. PMID: 17602313 Free article.

9

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

10

[Diet therapy with erucic acid in patients with X-linked adrenoleukodystrophy].

Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Uziel G, et al. Minerva Pediatr. 1991 Mar;43(3):127-31. Minerva Pediatr. 1991. PMID: 1870507 Italian. No abstract available.

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