Invernizzi F - Search Results

1

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Marchet S, Invernizzi F, Blasevich F, Bruno V, Dusi S, Venco P, Fiorillo C, Baranello G, Pallotti F, Lamantea E, Mora M, Tiranti V, Lamperti C. Marchet S, et al. Among authors: invernizzi f. Mitochondrion. 2019 Jul;47:24-29. doi: 10.1016/j.mito.2019.04.002. Epub 2019 Apr 12. Mitochondrion. 2019. PMID: 30986505 Clinical Trial.

2

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F. Pons R, et al. Among authors: invernizzi f. Pediatr Neurol. 2000 Feb;22(2):98-105. doi: 10.1016/s0887-8994(99)00132-0. Pediatr Neurol. 2000. PMID: 10738914

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

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.

5

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.

6

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

7

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, Ferrero I, Palmieri L, Zeviani M. Galassi G, et al. Among authors: invernizzi f. Neuromuscul Disord. 2008 Jun;18(6):465-70. doi: 10.1016/j.nmd.2008.03.013. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504126

8

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Mineri R, et al. Among authors: invernizzi f. J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271. J Med Genet. 2008. PMID: 18593870

9

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. Spinazzola A, et al. Among authors: invernizzi f. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27. J Inherit Metab Dis. 2009. PMID: 19125351

10

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Ghezzi D, et al. Among authors: invernizzi f. Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362274 Free PMC article.

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

229 results

Search Page

Filters