Invernizzi F - Search Results

1

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Haack TB, et al. Among authors: invernizzi f. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26. J Med Genet. 2012. PMID: 22200994

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

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

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.

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. 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.

8

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

9

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

10

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

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