Invernizzi F - Search Results

1

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A. Da Pozzo P, et al. Among authors: invernizzi f. Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18. Eur J Hum Genet. 2009. PMID: 19223931 Free PMC article.

2

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L, Nardocci N. Zorzi G, et al. Among authors: invernizzi f. Mov Disord. 2002 Mar;17(2):407-8. doi: 10.1002/mds.10045. Mov Disord. 2002. PMID: 11921134

3

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M. Agostino A, et al. Among authors: invernizzi f. Hum Mol Genet. 2003 Feb 15;12(4):399-413. doi: 10.1093/hmg/ddg038. Hum Mol Genet. 2003. PMID: 12566387

4

Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son.

Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, Invernizzi F, Zeviani M. Puoti G, et al. Among authors: invernizzi f. J Med Genet. 2003 Nov;40(11):858-63. doi: 10.1136/jmg.40.11.858. J Med Genet. 2003. PMID: 14627683 Free PMC article. No abstract available.

5

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.

Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H, Zeviani M. Limongelli A, et al. Among authors: invernizzi f. J Med Genet. 2004 May;41(5):342-9. doi: 10.1136/jmg.2003.016048. J Med Genet. 2004. PMID: 15121771 Free PMC article.

6

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G, Nardocci N. Garavaglia B, et al. Among authors: invernizzi f. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI.0000037349.08483.96. J Inherit Metab Dis. 2004. PMID: 15303002

7

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. Among authors: invernizzi f. 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.

8

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: invernizzi f. 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.

9

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: invernizzi f. Brain. 2007 Jul;130(Pt 7):1894-904. doi: 10.1093/brain/awm114. Epub 2007 May 29. Brain. 2007. PMID: 17535832

10

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M. Invernizzi F, et al. Neuromuscul Disord. 2008 Jun;18(6):460-4. doi: 10.1016/j.nmd.2008.04.005. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18502641

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