Uziel G - Search Results

1

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.

Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L. Mora M, et al. Among authors: uziel g. Neuromuscul Disord. 1996 Oct;6(5):377-81. doi: 10.1016/0960-8966(96)00359-8. Neuromuscul Disord. 1996. PMID: 8938702

2

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases. Mancuso M, et al. Among authors: uziel g. Neuromuscul Disord. 2012 Dec;22 Suppl 3(3-3):S226-9. doi: 10.1016/j.nmd.2012.10.012. Neuromuscul Disord. 2012. PMID: 23182644 Free PMC article. Review.

3

Effects of riboflavin in children with complex II deficiency.

Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M, Uziel G. Bugiani M, et al. Among authors: uziel g. Brain Dev. 2006 Oct;28(9):576-81. doi: 10.1016/j.braindev.2006.04.001. Epub 2006 Jun 5. Brain Dev. 2006. PMID: 16737791 Clinical Trial.

4

Mitochondrial dysfunction in central nervous system white matter disorders.

Morató L, Bertini E, Verrigni D, Ardissone A, Ruiz M, Ferrer I, Uziel G, Pujol A. Morató L, et al. Among authors: uziel g. Glia. 2014 Nov;62(11):1878-94. doi: 10.1002/glia.22670. Epub 2014 May 28. Glia. 2014. PMID: 24865954 Review.

5

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Ciccolella M, Catteruccia M, Benedetti S, Moroni I, Uziel G, Pantaleoni C, Chiapparini L, Bizzi A, D'Amico A, Fattori F, Salsano ML, Pastore A, Tozzi G, Piemonte F, Bertini E. Ciccolella M, et al. Among authors: uziel g. Neuromuscul Disord. 2012 Dec;22(12):1075-82. doi: 10.1016/j.nmd.2012.05.007. Epub 2012 Jul 21. Neuromuscul Disord. 2012. PMID: 22824638

6

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G. Bizzi A, et al. Among authors: uziel g. Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246. Ann Neurol. 2002. PMID: 12210795

7

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.

Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M. Farina L, et al. Among authors: uziel g. AJNR Am J Neuroradiol. 2002 Aug;23(7):1095-100. AJNR Am J Neuroradiol. 2002. PMID: 12169463 Free PMC article.

8

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: uziel g. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

9

Classification of childhood white matter disorders using proton MR spectroscopic imaging.

Bizzi A, Castelli G, Bugiani M, Barker PB, Herskovits EH, Danesi U, Erbetta A, Moroni I, Farina L, Uziel G. Bizzi A, et al. Among authors: uziel g. AJNR Am J Neuroradiol. 2008 Aug;29(7):1270-5. doi: 10.3174/ajnr.A1106. Epub 2008 May 15. AJNR Am J Neuroradiol. 2008. PMID: 18483189 Free PMC article.

10

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. D'Incerti L, et al. Among authors: uziel g. Neuroradiology. 1998 Nov;40(11):727-33. doi: 10.1007/s002340050673. Neuroradiology. 1998. PMID: 9860123

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