Pubblicazioni dott.ssa Federica Invernizzi 26. Baruffini E, Horvath R ...

of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet.
2008 Jul;45(7):473-8
19. Galassi G, Lamantea E, Invernizzi F, Tafani F, Pisano I, Ferrero I,
calmieri L, Zeviani M. Additive effects of POLG1 and ANT1 mutations
in a complex encephalomyopthy. Neuromuscul Disord 2008 Jun 18(6):
465-70 Epub 2008 May 27
18. Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M.
Two novel mutations in a patient with progressive external
ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and
parkinsonism. Neuromuscul Disord 2008 Jun 18(6): 460-4 Epub 2008
May 27
17. 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,. Novel mutations of ND genes in complex I
deficiency associated with mitochondrial encephalopaty. Brain. 2007 Jul;
130 (Pt 7): 1894-1904 . Epub 2007 May 29.
16. Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M,
Uziel G. Effects of riboflavin in children with complex II deficiency.
Brain Dev. 2006 Oct ; 28 (9) : 576 - 581. Epub 2006 Jun 5.
15. Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F,
Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Clinical
and molecular findings in children with complex I deficiency. Biochim
Biophys Acta. 2004 Dec 6;1659(2-3):136-47.
14. Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B,
Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G,
Palmieri F, Taroni F. Molecular and functional analysis of SLC25A20
mutations causing carnitine-acylcarnitine translocase deficiency. Hum
Mutat. 2004 Oct;24(4):312-20.
13. Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi
D, Zeviani M, Zorzi G, Nardocci N. GTP-cyclohydrolase I gene mutations
in patients with autosomal dominant and recessive GTP-CH1 deficiency:
identification and functional characterization of four novel mutations. J
Inherit Metab Dis. 2004;27(4):455-63.
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