Bugiani M - Search Results

1

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F. Canafoglia L, et al. Among authors: bugiani m. Mov Disord. 2006 Sep;21(9):1453-6. doi: 10.1002/mds.20984. Mov Disord. 2006. PMID: 16755579

2

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

Moroni I, Morbin M, Milani M, Ciano C, Bugiani M, Pagliano E, Cavallaro T, Pareyson D, Taroni F. Moroni I, et al. Among authors: bugiani m. Neuromuscul Disord. 2009 Jul;19(7):476-80. doi: 10.1016/j.nmd.2009.04.014. Epub 2009 Jun 4. Neuromuscul Disord. 2009. PMID: 19500985

3

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: bugiani m. AJNR Am J Neuroradiol. 2002 Aug;23(7):1095-100. AJNR Am J Neuroradiol. 2002. PMID: 12169463 Free PMC article.

4

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M. Bugiani M, et al. J Med Genet. 2005 May;42(5):e28. doi: 10.1136/jmg.2004.029926. J Med Genet. 2005. PMID: 15863660 Free PMC article.

5

Childhood-onset multifocal motor neuropathy with conduction blocks.

Moroni I, Bugiani M, Ciano C, Bono R, Pareyson D. Moroni I, et al. Among authors: bugiani m. Neurology. 2006 Mar 28;66(6):922-4. doi: 10.1212/01.wnl.0000203346.25068.3f. Neurology. 2006. PMID: 16567714

6

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: bugiani m. 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.

7

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. 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.

8

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M. Fernandez-Vizarra E, et al. Among authors: bugiani m. Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403714

9

Cerebral white matter involvement in children with mitochondrial encephalopathies.

Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Moroni I, et al. Among authors: bugiani m. Neuropediatrics. 2002 Apr;33(2):79-85. doi: 10.1055/s-2002-32372. Neuropediatrics. 2002. PMID: 12075488

10

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. Moroni I, et al. Among authors: bugiani m. Neurology. 2004 May 25;62(10):1882-4. doi: 10.1212/01.wnl.0000125335.21381.87. Neurology. 2004. PMID: 15159502 Review.

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