Bugiani M - Search Results

1

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Malfatti E, Bugiani M, Invernizzi F, de Souza CF, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MT, Giugliani R, Uziel G, Zeviani M. Malfatti E, et al. Among authors: bugiani m. Brain. 2007 Jul;130(Pt 7):1894-904. doi: 10.1093/brain/awm114. Epub 2007 May 29. Brain. 2007. PMID: 17535832

2

Neuronal ceroid lipofuscinosis: detection of atypical forms.

Nardocci N, Morbin M, Bugiani M, Lamantea E, Bugiani O. Nardocci N, et al. Among authors: bugiani m, bugiani o. Neurol Sci. 2000;21(3 Suppl):S57-61. doi: 10.1007/s100720070041. Neurol Sci. 2000. PMID: 11073229

3

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

4

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.

5

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: bugiani m. Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246. Ann Neurol. 2002. PMID: 12210795

6

Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.

Bugiani M, Moroni I, Bizzi A, Nardocci N, Bettecken T, Gärtner J, Uziel G. Bugiani M, et al. Neuropediatrics. 2003 Aug;34(4):211-4. doi: 10.1055/s-2003-42209. Neuropediatrics. 2003. PMID: 12973663

7

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.

8

Clinical and molecular findings in children with complex I deficiency.

Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Bugiani M, et al. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006. Biochim Biophys Acta. 2004. PMID: 15576045 Free article.

9

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.

10

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M. Bugiani M, et al. Neurology. 2006 Jul 25;67(2):273-9. doi: 10.1212/01.wnl.0000223832.66286.e4. Epub 2006 May 17. Neurology. 2006. PMID: 16707726 Clinical Trial.

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