Formazione

Laurea in Medicina e Chirurgia cum laude (Università di Milano, 1995)
Specializzazione in Neuropsichiatria Infantile cum laude (Università di Pavia, 2001)

Esperienze professionali

2002: Borsista di ricerca presso il "Centro per la diagnostica avanzata e la ricerca sulla patologia neurologica mitocondriale dell'infanzia", Divisione di Neuropsichiatria Infantile, Istituto Nazionale Neurologico "C. Besta" di Milano

2003 - ad oggi: Contrattista di ricerca presso il "Centro per la diagnostica avanzata e la ricerca sulla patologia neurologica mitocondriale dell'infanzia", Divisione di Neuropsichiatria Infantile, Istituto Nazionale Neurologico "C. Besta" di Milano

Interessi professionali

• Genetica e patogenesi delle encefalopatie spongiose umane ed animali
• Ceroidolipofuscinosi Neuronali
• Encefalopatie metaboliche ereditarie ad esordio nell'età infantile
• Leucoencefalopatie a difetto non definito
• Encefalomiopatie mitocondriali dell'infanzia

Pubblicazioni

1. 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.

2. Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology. 2004 62(10):1882-4.

3. Bugiani M, Moroni I, Bizzi A, Nardocci N, Bettecken T, Gartner J, Uziel G. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics. 2003 34(4):211-4.

4. 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.

5. 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.

6. 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.

7. 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.

8. 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.

9. 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.

10. 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.

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].