Uziel G - Search Results

1

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

2

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C. Castellotti B, et al. Among authors: uziel g. Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5. Neurogenetics. 2011. PMID: 21465257

3

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

4

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

5

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S. Taroni F, et al. Among authors: uziel g. Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8429-33. doi: 10.1073/pnas.89.18.8429. Proc Natl Acad Sci U S A. 1992. PMID: 1528846 Free PMC article.

6

Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.

Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S. Garavaglia B, et al. Among authors: uziel g. Neurology. 1991 Oct;41(10):1691-3. doi: 10.1212/wnl.41.10.1691. Neurology. 1991. PMID: 1922823

7

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.

Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F, DiDonato S. Gellera C, et al. Among authors: uziel g. Neurology. 1990 Mar;40(3 Pt 1):495-9. doi: 10.1212/wnl.40.3_part_1.495. Neurology. 1990. PMID: 2314594

8

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.

DiDonato S, Gellera C, Peluchetti D, Uziel G, Antonelli A, Lus G, Rimoldi M. DiDonato S, et al. Among authors: uziel g. Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510. Ann Neurol. 1989. PMID: 2774489

9

Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy.

Uziel G, Cornelio F, Gellera C, Perego C, Rimoldi M, DiDonato S. Uziel G, et al. Ital J Neurol Sci. 1986 Feb;7(1):107-12. doi: 10.1007/BF02230427. Ital J Neurol Sci. 1986. PMID: 3957624

10

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G. Garavaglia B, et al. Among authors: uziel g. J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813. J Inherit Metab Dis. 1994. PMID: 7807937 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

146 results

Search Page

Filters