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

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