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Formazione
Biological Sciences degree (University of Milan, 1994)
Professional experience
1994-1995: Graduate student at at the Division of Biochemistry
and Genetics, "C. Besta" National Institute of Neurology,
Milan
1995-1997: Junior research fellow at the Division of Biochemistry
and Genetics, "C. Besta" National Institute of Neurology,
Milan
1997-2001: Senior research fellow at the Division of Biochemistry
and Genetics, "C. Besta" National Institute of Neurology,
Milan
2001- present: Senior research fellow at the "Center for
advanced diagnostics and research on Neurological Mitochondrial
Disorders of Infancy and Childhood" "Bicocca"
Laboratories Department of Experimental Research and Diagnostics
"C. Besta" National Institute of Neurology
Professional interests
- Molecular biology
- Biochemistry and genetics of mitochondrial disease and energy
metabolism
Publications
- Ribes, E. Riudor, B. Garavaglia, G. Martinez, A. Arranz, F.
Invernizzi, P. Briones, L. Lamantea, M. Sentis, A. Barcelò,
and M. Roig.
Mild or absent clinical signs in twin sisters with short-chain
acyl-CoAdehydrogenase deficiency
- K. Wataya, J. Akanuma, P. Cavadini, Y. Aoki, S. Kure, F. Invernizzi,
I. Yoshida, M. Yoshino, J. Kira, F. Taroni, Y. Matsubara, and
K. Narisawa.
Two CPT II mutations in three Japanese patients with carnitinepalmitoyltransferase
II deficiency: functional analysis and association with polymorphic
haplotypes and two clinical phenotypes Hum. Mutat. (1998) 11(5):
377-386.
- C. Minetti, B. Garavaglia, M. Bado, F. Invernizzi, C. Bruno,
M. Rimoldi, R. Pons, F. Taroni, and G. Cardone.
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a
child with recurrent myoglobinuria Neuromusc. Dis. (1998) 8: 3-6.
- E. Torchiana, L. Lulli, E. Cattaneo, F. Invernizzi, R. Orefice,
B. Bertagnolio, S. Di Donato, and G. Finocchiaro.
Retroviral-mediated transferof the Galactocerebrosidase gene in
neural progenitor cells. NeuroReport (1998) 9: 3823-3827.
- R. Parini, F. Invernizzi, F. Menni, B. Garavaglia, D. Melotti,
M. Rimoldi, S. Salera, and C. Tosetto.
MCT loading test in carnitine-acylcarnitine translocase deficiency:
insights on treatment.
J. Inher. Metab. Dis. (1999) 22: 733-739.
- R. Pons, P. Cavadini, S. Baratta, F. Invernizzi, E. Lamantea,
B. Garavaglia, and F. Taroni.
Clinical and molecular heterogeneity in Very-long-chain acyl-CoA
dehydrogenase deficiency
Pediatr. Neurol (2000) 22: 98-105.
- F. Invernizzi, A. B. Burlina, A. Donadio, G. Giordano, F. Taroni,
and B. Garavaglia. Lethal neonatal presentation of carnitine palmitoyltransferase
I deficiency.
J. Inherit. Metab. Dis. (2001) 24: 601-602.
- G. Zorzi, B. Garavaglia, F. Invernizzi, F. Girotti, P. Soliveri,
M. Zeviani, L. Angelini, and N. Nardocci.
Frequency of DYT 1 mutation in early onset primary dystonia in
Italian patients.
Mov. Disord. (2002) Mar; 17 (2): 407-408.
- 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
- 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.
- G. Puoti, F. Carrara, S. Sampaolo, M. De Caro, C.M. Vincitorio, F. Invernizzi, M Zeviani.
Identical large scale rearrangement of mitochondria DNA causes Kearns-Sayre syndrome in a mother and her son.
J. Med. Genet. (2003) 40: 858-863
- V. Iacobazzi, F. Invernizzi, S. Baratta, R. Pons, W. Chung, B. Garavaglia, C. Dionisi Vici, A. Ribes, R. Parini,
G. Lauria, Ferdinando Palmieri, and F. Taroni.
Molecular and functional analysis of mutations causing carnitine/acylcarnitine translocase deficiency.
Hum. Mutat. 2004 Oct; 24(4): 312-320
- B. Garavaglia, F. Invernizzi, M.L. Agostoni Carbone, V. Viscardi, F. Saracino, D. Ghezzi, M. Zeviani, G. Zorzi, N. Nardocci.
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.
- 14. A. Limongelli, J. Schaefer, S. Jackson, F. Invernizzi, T. Suzuki, H. Reichmann, M. Zeviani.
Variable penetrance of a familial progressive necrotizing encephalopathy due to a novel tRNA ile homoplasmic mutation
in the mitochondrial genome.
J. Med. Genet. 2004 May; 41(5): 342-349
- 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.
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