Education

Graduated from Medical School, magna cum laude, at the University of Milan, Italy (1995)
Residency in Child Neurology and Psychiatry at the University of Pavia, Italy (2001)

Professional experience

2002: Research fellowship in the Department of Child Neurology at the Neurological Institute "C. Besta" of Milan, Italy

2003 - present: Senior Research fellowship in the Department of Child Neurology at the Neurological Institute "C. Besta" of Milan, Italy

Professional interests

• Genetics and pathophysiology of human and animal spongiform encephalopathies
• Neuronal Ceroid-Lipofuscinosis
• Inherited metabolic encephalopathies in childhood
• Undefined Leukoencephalopathies
• Mitochondrial encephalopathies in childhood

Publications

1. Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol. 2002 Aug;52(2):227-31.

2. Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol. 2002 Aug;23(7):1095-100.

3. Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics. 2002 Apr;33(2):79-85.

4. Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet. 2001 Nov;69(5):1134-40.

5. Bizzi A, Ulug AM, Crawford TO, Passe T, Bugiani M, Bryan RN, Barker PB. Quantitative proton MR spectroscopic imaging in acute disseminated encephalomyelitis.
AJNR Am J Neuroradiol. 2001 Jun-Jul;22(6):1125-30.

6. Nardocci N, Morbin M, Bugiani M, Lamantea E, Bugiani O. Neuronal ceroid lipofuscinosis: detection of atypical forms. Neurol Sci. 2000;21(3 Suppl):S57-61.

7. Angelini L, Bugiani M, Zibordi F, Cinque P, Bizzi A. Brainstem encephalitis resulting from Epstein-Barr virus mimicking an infiltrating tumor in a child. Pediatr Neurol. 2000 Feb;22(2):130-2.

8. Piccardo P, Langeveld JP, Hill AF, Dlouhy SR, Young K, Giaccone G, Rossi G, Bugiani M, Bugiani O, Meloen RH, Collinge J, Tagliavini F, Ghetti B. An antibody raised against a conserved sequence of the prion protein recognizes pathological isoforms in human and animal prion diseases, including Creutzfeldt-Jakob disease and bovine spongiform encephalopathy.
Am J Pathol. 1998 Jun;152(6):1415-20.

9. Rossi G, Macchi G, Porro M, Giaccone G, Bugiani M, Scarpini E, Scarlato G, Molini GE, Sasanelli F, Bugiani O, Tagliavini F. Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. Neurology. 1998 Mar;50(3):688-92.

10. Tagliavini F, McArthur RA, Canciani B, Giaccone G, Porro M, Bugiani M, Lievens PM, Bugiani O, Peri E, Dall'Ara P, Rocchi M, Poli G, Forloni G, Bandiera T, Varasi M, Suarato A, Cassutti P, Cervini MA, Lansen J, Salmona M, Post C. Effectiveness of anthracycline against experimental prion disease in Syrian hamsters. Science. 1997 May 16;276(5315):1119-22.

11. Piccardo P, Langeveld JP, Hill AF, Dlouhy SR, Young K, Giaccone G, Rossi G, Bugiani M, Bugiani O, Meloen RH, Collinge J, Tagliavini F, Ghetti B. An antibody raised against a conserved sequence of the prion protein recognizes pathological isoforms in human and animal prion diseases, including Creutzfeldt-Jakob disease and bovine spongiform encephalopathy.
Am J Pathol. 1998 Jun;152(6):1415-20.

12. Rossi G, Macchi G, Porro M, Giaccone G, Bugiani M, Scarpini E, Scarlato G, Molini GE, Sasanelli F, Bugiani O, Tagliavini F. Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. Neurology. 1998 Mar;50(3):688-92.

13. Tagliavini F, McArthur RA, Canciani B, Giaccone G, Porro M, Bugiani M, Lievens PM, Bugiani O, Peri E, Dall'Ara P, Rocchi M, Poli G, Forloni G, Bandiera T, Varasi M, Suarato A, Cassutti P, Cervini MA, Lansen J, Salmona M, Post C. Effectiveness of anthracycline against experimental prion disease in Syrian hamsters. Science. 1997 May 16;276(5315):1119-22.

14. Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M. Novel mutations in COX15 in a long-surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet. 2005;42(5):e28.

15.Moroni I, Bugiani M, Ciano C, Bono R, Pareyson D. Childhood-onset multifocal motor neuropathy with conduction blocks. Neurology 2006, 66(6):922-924.

16.Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology 2006 May 17; [Epub ahead of print].

17.Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F. Rhythmic cortical myoclonus in Niemann-Pick disease type C. Movement Disorders 2006 Jun 5; [Epub ahead of print].

18.Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M, Uziel G. Effects of riboflavin in children with complex II deficiency. Brain & Development 2006 May 29; [Epub ahead of print].