Dr. Federica Invernizzi

Address

Pierfranco and Luisa Mariani Center for the Study of Paediatric Mitochondrial Disorders

"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
Via LiberoTemolo 4
20126 Milano
ITALIA
Tel +39-02-2394-2628
Fax +39-02-2394-2619
finvernizzi@istituto-besta.it

 

 

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

  1. 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
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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
  10. 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.
  11. 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
  12. 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
  13. 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. 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
  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.