EDUCATION

MD degree cum laude (University of Milan, 1987)
Specialization in Neurology (University of Milan, 1992)
Specialization in Clinical Genetics(University of Milan, 2000)

PROFESSIONAL EXPERIENCE

1988-1990: "post-doctoral fellow" at Neuromuscular Center, Neurology Department
University of Southern California, Los Angeles, CA, USA.

1991-1995: research fellow, Division of Biochemistry and Genetics, “C. Besta” National Institute of Neurology, Milano, Italy

1996-present: assistant in Neurology, Division of Biochemistry and Genetics, “C. Besta” National Institute of Neurology, Milano, Italy

PROFESSIONAL INTERESTS

• Clinical aspects and genetic counseling of mitochondrial diseases
• Clinical aspects and genetic counseling of inherited neurodegenerative disease

PUBLICATIONS

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C,DiDonato S.
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA trnalys gene. Eur J Hum Genet 1993; 1:80-87.

Di Donato S, Zeviani M, Giovannini P, Savarese N, Rimoldi M, Mariotti C, Girotti F, Caraceni T. Respiratory chain and mitochondrial dna in muscle and brain of parkinson¹s disease patients. Neurology 1993; 43:2262-2268.

Mariotti C, Tiranti V, Carrara F, DallaPiccola B, DiDonato S, Zeviani M. Defective respiratory capacity and mitochondrial protein synthesis in trasformant cybrids harboring the tRNAleu(uur) mutation associated with maternally inherited myopathy and cardiomyopathy.
J Clin Invest 1994; 93: 1102-1107.

Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V. Searching for genes affecting the structural integrity of the mitochondrial genome. Biochim Biophys Acta 1995;1271:153-158.

Zeviani M, Mariotti C, Antozzi C, Fratta GM, Rustin P, Prelle P. OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy. Muscle Nerve 1995; Suppl.3:S170-S174.

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.J Neurol 1995; 242:304-312.

Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Fratta GM, Tiranti V, DiDonato S, Zeviani S. Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol 1995; 242:547-556.

Fabrizi GM, Tiranti V, Mariotti C, Guazzi GC, Malandrini A, DiDonato S, Zeviani M. Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy. J Neurol 1995; 242:490-496.

Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M. Maternally inherited earing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 1995;4:1421-1427.

Antozzi C, Uziel G, Mariotti C, Rimoldi M, Di Donato S, Zeviani M. Mitochondrial encephalomyopathies. In Di Donato S, Parini R, Uziel G, Eds. Metabolic Encephalopathies. John Libbey & Company Ltd., 1995; pp. 25-36.

Pareyson D., Gellera C., Castellotti B., Antonelli A., Riggio M.C., Mazzucchelli F., Girotti, F., Pietrini V., Mariotti C., Di Donato S. Clinical and molecular studies of 73 Italian ADCA I families: SCA 1 and SCA 2 are the most common genotypes. J Neurol 1999; 246 (5):389-393.

Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, Silani V, Marconi R, Tezzon F, Siciliano G, Marchini C, Gellera C, Di Donato S. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscular Disorders 2000; 10(6): 391-397.

Filla A, Mariotti C, Caruso G, Coppola G, Cocozza S, Castaldo I, Calabrese O, Salvatore E, De Michele G, Riggio MC, Pareyson D, Gellera C, Di Donato S. Relative frequencies of CAG expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families. Eur Neurol 2000; 44: 31-36.

Squitieri F., Berardelli A., Nargi E., Castellotti B., Mariotti C., Cannella M., Lavitrano M. L., de Grazia U., Gellera C., Ruggieri S. Atypical movement disorders in the early stages of Huntington disease: clinical and genetic analysis. Clinical Genetics 2000; 58: 50-56.

Gellera C., Castellotti B., Riggio M.C., Silani V., Morandi L., Testa D., Casali C., Taroni F., Di Donato S., Zeviani M., Mariotti C. SOD-1 gene mutations in Italian patients with familial and sporadic Amyotrophic Lateral Sclerosis: identification of three novel missense mutations. Neuromuscular Disorder 2001;11(4): 404-410.

Mariotti C., Gellera C. Grisoli M., Mineri S., Castucci A., Di Donato S. Pathogenic effect of an intermediate-size SCA6 allele (CAG)19 in a homozygous patient. Neurology 2001; 57: 1502-1504.

Di Donato S., Gellera C., Mariotti C. The complex clinical and genetic classification of inherited ataxias. II Autosomal recessive ataxias. Neurol Sci, 22: 219-228; 2001.

Lamantea E., Carrara F., Mariotti C., Morandi C., Tiranti V., Zeviani M. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscular Disorders, 12: 49-52; 2002.

Corona P., Lamantea E., Greco M., Carrara F., Agostino A., Guidetti D., Dotti M.T., Mariotti C., Zeviani M. Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol, 51: 118-122; 2002

F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, Almaqvist EW, Turner D, Bachoud-lévi A-C, Simpson SA, Delatycki M, Maglione V, Hyden MR, Di Donato S. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 126:946-955; 2003

Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di Donato S. Idebenone treatment in Friedreich patients:one-year-long randomized placebo-controlled trial. Neurology 60: 1676-1679; 2003

Varani K, Abbracchio MP, Cannella M, Cislaghi G, Giallonardo P, Mariotti C, Cattabriga E, Cattabeni, F, Borea PA, Squitieri F, Cattaneo E. Aberrant A2A receptor function in peripheral blood cells in Huntington’s disease. FASEB Journal 17:2148-2150;2003

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. Molecular Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of SCA Genes and CAG/CTG Repeat Expansion Detection (RED) in 225 Italian Families. Arch Neurol 61:727-733;2004

Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 25:130-137;2004

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmuller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS, Turnbull D. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004; 364:592-596