Pubblicazioni dott.ssa Federica Invernizzi 26. Baruffini E, Horvath R ...
Pubblicazioni dott.ssa Federica Invernizzi 26. Baruffini E, Horvath R ...
Pubblicazioni dott.ssa Federica Invernizzi 26. Baruffini E, Horvath R ...
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<strong>Pubblicazioni</strong> <strong>dott</strong>.<strong>ssa</strong> <strong>Federica</strong> <strong>Invernizzi</strong><br />
<strong>26.</strong> <strong>Baruffini</strong> E, <strong>Horvath</strong> R, Dallabona C, Czermin B, Lamantea E, Bindoff L,<br />
<strong>Invernizzi</strong> F, Ferrero I, Zeviani M, Lodi T. Predicting the contribution of<br />
novel POLG mutations to human disease through analysis in yeast model.<br />
Mitochondrion. 2010 Sep 27. [Epub ahead of print]<br />
25. Ghezzi D, Sevrioukova I, <strong>Invernizzi</strong> F, Lamperti C, Mora M, D'Adamo P,<br />
Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-linked mitochondrial<br />
encephalomyopathy associated with a mutation in apoptosis-inducing<br />
factor.Am J Hum Genet. 2010 Apr 9;86(4):639-49. Epub 2010 Apr 1.<br />
24. Ghezzi D, Goffrini P, Uziel G, <strong>Horvath</strong> R, Klopstock T, Lochmuller H,<br />
D’Adamo P, Gasparini P, Stro TM, Prokisch H, <strong>Invernizzi</strong> F, Ferrero I,<br />
Zeviani M. SDHAF1, encoding a LYR complex-II specific assembly<br />
factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat<br />
Genet 2009 May 24.<br />
23. Da Pozzo P, Caradioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano<br />
C, Berti G, <strong>Invernizzi</strong> F, Zeviani M, Federico A. A novel mutation in the<br />
mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis<br />
pigmentosa, deafness, leukoencephalopathy and complex I deficiency.<br />
Eur J Hum Genet 2009 17: 1092-1096<br />
22. Cannelli N, Garavaglia B, Limonati A, Aiello C, Barzaghi C, Pezzini F,<br />
Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Te<strong>ssa</strong><br />
A, <strong>Invernizzi</strong> F, Pe<strong>ssa</strong>gno A, Boldrini R, Zibordi F, Grazian L, Claps D,<br />
Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Variant late infantile<br />
ceroid lipofuscinoses associated with novel mutations in CLN6. Biochem<br />
Biophys Res Commun 2009 Feb 20:379(4)892-7<br />
21. Spinazzola A, <strong>Invernizzi</strong> F, Carrara F, Lamantea E, Donati A, Dirocco M,<br />
Giordano I, Meznaric-Petrusa M, <strong>Baruffini</strong> E, Zeviani M. Clinical and<br />
molecular features of mitochondrial DNA depletion syndromes. J Inherit<br />
Metab Dis 2008 Dec 27<br />
20. Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von<br />
Dobeln U, Mereghetti P, Di Meo I, <strong>Invernizzi</strong> F, Zeviani M, Uziel G,<br />
Tiranti V. Identification of new mutations in the ETHE1 gene in a cohort<br />
<strong>Pubblicazioni</strong> F. <strong>Invernizzi</strong> Pagina 1 di 4
of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet.<br />
2008 Jul;45(7):473-8<br />
19. Galassi G, Lamantea E, <strong>Invernizzi</strong> F, Tafani F, Pisano I, Ferrero I,<br />
calmieri L, Zeviani M. Additive effects of POLG1 and ANT1 mutations<br />
in a complex encephalomyopthy. Neuromuscul Disord 2008 Jun 18(6):<br />
465-70 Epub 2008 May 27<br />
18. <strong>Invernizzi</strong> F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M.<br />
Two novel mutations in a patient with progressive external<br />
ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and<br />
parkinsonism. Neuromuscul Disord 2008 Jun 18(6): 460-4 Epub 2008<br />
May 27<br />
17. Malfatti E, Bugiani M, <strong>Invernizzi</strong> F, de Souza CF, Farina L, Carrara F,<br />
Lamantea E, Antozzi C, Confalonieri P, Sanseverino MT, Giugliani R,<br />
Uziel G, Zeviani M,. Novel mutations of ND genes in complex I<br />
deficiency associated with mitochondrial encephalopaty. Brain. 2007 Jul;<br />
130 (Pt 7): 1894-1904 . Epub 2007 May 29.<br />
16. Bugiani M, Lamantea E, <strong>Invernizzi</strong> F, Moroni I, Bizzi A, Zeviani M,<br />
Uziel G. Effects of riboflavin in children with complex II deficiency.<br />
Brain Dev. 2006 Oct ; 28 (9) : 576 - 581. Epub 2006 Jun 5.<br />
15. Bugiani M, <strong>Invernizzi</strong> F, Alberio S, Briem E, Lamantea E, Carrara F,<br />
Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Clinical<br />
and molecular findings in children with complex I deficiency. Biochim<br />
Biophys Acta. 2004 Dec 6;1659(2-3):136-47.<br />
14. Iacobazzi V, <strong>Invernizzi</strong> F, Baratta S, Pons R, Chung W, Garavaglia B,<br />
Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G,<br />
Palmieri F, Taroni F. Molecular and functional analysis of SLC25A20<br />
mutations causing carnitine-acylcarnitine translocase deficiency. Hum<br />
Mutat. 2004 Oct;24(4):312-20.<br />
13. Garavaglia B, <strong>Invernizzi</strong> F, Carbone ML, Viscardi V, Saracino F, Ghezzi<br />
D, Zeviani M, Zorzi G, Nardocci N. GTP-cyclohydrolase I gene mutations<br />
in patients with autosomal dominant and recessive GTP-CH1 deficiency:<br />
identification and functional characterization of four novel mutations. J<br />
Inherit Metab Dis. 2004;27(4):455-63.<br />
<strong>Pubblicazioni</strong> F. <strong>Invernizzi</strong> Pagina 2 di 4
12. Limongelli A, Schaefer J, Jackson S, <strong>Invernizzi</strong> F, Kirino Y, Suzuki T,<br />
Reichmann H, Zeviani M. Variable penetrance of a familial progressive<br />
necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic<br />
mutation in the mitochondrial genome. J Med Genet. 2004<br />
May;41(5):342-9.<br />
11. Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, <strong>Invernizzi</strong> F,<br />
Zeviani M. Identical large scale rearrangement of mitochondrial DNA<br />
causes Kearns-Sayre syndrome in a mother and her son. J Med Genet.<br />
2003 Nov;40(11):858-63.<br />
10. Agostino A, <strong>Invernizzi</strong> F, Tiveron C, Fagiolari G, Prelle A, Lamantea E,<br />
Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M. Constitutive<br />
knockout of Surf1 is associated with high embryonic lethality,<br />
mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum<br />
Mol Genet. 2003 Feb 15;12(4):399-413.<br />
09. Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L,<br />
Pannacci M, <strong>Invernizzi</strong> F, Garavaglia B. Neonatal dopa-responsive<br />
extrapyramidal syndrome in twins with recessive GTPCH deficiency.<br />
Neurology. 2003 Jan 28;60(2):335-7.<br />
08. Zorzi G, Garavaglia B, <strong>Invernizzi</strong> F, Girotti F, Soliveri P, Zeviani M,<br />
Angelini L, Nardocci N. Frequency of DYT1 mutation in early onset<br />
primary dystonia in Italian patients. Mov Disord. 2002 Mar;17(2):407-8.<br />
07. <strong>Invernizzi</strong> F, Burlina AB, Donadio A, Giordano G, Taroni F, Garavaglia<br />
B. Lethal neonatal presentation of carnitine palmitoyltransferase I<br />
deficiency. J Inherit Metab Dis. 2001 Oct;24(5):601-2.<br />
06. Pons R, Cavadini P, Baratta S, <strong>Invernizzi</strong> F, Lamantea E, Garavaglia B,<br />
Taroni F. Clinical and molecular heterogeneity in very-long-chain acyl-<br />
coenzyme A dehydrogenase deficiency. Pediatr Neurol. 2000<br />
Feb;22(2):98-105.<br />
05. Parini R, <strong>Invernizzi</strong> F, Menni F, Garavaglia B, Melotti D, Rimoldi M,<br />
Salera S, Tosetto C, Taroni F. Medium-chain triglyceride loading test in<br />
carnitine-acylcarnitine translocase deficiency: insights on treatment. J<br />
Inherit Metab Dis. 1999 Aug;22(6):733-9.<br />
04. Torchiana E, Lulli L, Cattaneo E, <strong>Invernizzi</strong> F, Orefice R, Bertagnolio B,<br />
Di Donato S, Finocchiaro G. Retroviral-mediated transfer of the<br />
<strong>Pubblicazioni</strong> F. <strong>Invernizzi</strong> Pagina 3 di 4
galactocerebrosidase gene in neural progenitor cells. Neuroreport. 1998<br />
Dec 1;9(17):3823-7.<br />
03. Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, <strong>Invernizzi</strong> F,<br />
Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Two CPT2<br />
mutations in three Japanese patients with carnitine palmitoyltransferase II<br />
deficiency: functional analysis and association with polymorphic<br />
haplotypes and two clinical phenotypes. Hum Mutat. 1998;11(5):377-86.<br />
02. Ribes A, Riudor E, Garavaglia B, Martinez G, Arranz A, <strong>Invernizzi</strong> F,<br />
Briones P, Lamantea E, Sentis M, Barcelo A, Roig M. Mild or absent<br />
clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase<br />
deficiency. Eur J Pediatr. 1998 Apr;157(4):317-20.<br />
01. Minetti C, Garavaglia B, Bado M, <strong>Invernizzi</strong> F, Bruno C, Rimoldi M,<br />
Pons R, Taroni F, Cordone G. Very-long-chain acyl-coenzyme A<br />
dehydrogenase deficiency in a child with recurrent myoglobinuria.<br />
Neuromuscul Disord. 1998 Feb;8(1):3-6.<br />
Milano, 26-04-2010 dr.<strong>ssa</strong> <strong>Federica</strong> <strong>Invernizzi</strong><br />
<strong>Pubblicazioni</strong> F. <strong>Invernizzi</strong> Pagina 4 di 4