Mariotti C - Search Results

1

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M. Pareyson D, et al. Among authors: mariotti c. Brain. 2008 Sep;131(Pt 9):2321-31. doi: 10.1093/brain/awn178. Epub 2008 Aug 6. Brain. 2008. PMID: 18684770 Review.

2

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M. Tiranti V, et al. Among authors: mariotti c. Hum Mol Genet. 1995 Aug;4(8):1421-7. doi: 10.1093/hmg/4.8.1421. Hum Mol Genet. 1995. PMID: 7581383

3

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients.

DiDonato S, Zeviani M, Giovannini P, Savarese N, Rimoldi M, Mariotti C, Girotti F, Caraceni T. DiDonato S, et al. Among authors: mariotti c. Neurology. 1993 Nov;43(11):2262-8. doi: 10.1212/wnl.43.11.2262. Neurology. 1993. PMID: 8232940

4

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

Fabrizi GM, Tiranti V, Mariotti C, Guazzi GC, Malandrini A, DiDonato S, Zeviani M. Fabrizi GM, et al. Among authors: mariotti c. J Neurol. 1995 Aug;242(8):490-6. doi: 10.1007/BF00867418. J Neurol. 1995. PMID: 8530975

5

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S, Zeviani M. Mariotti C, et al. J Neurol. 1995 Sep;242(9):547-56. doi: 10.1007/BF00868806. J Neurol. 1995. PMID: 8551315

6

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.

Pareyson D, Gellera C, Castellotti B, Antonelli A, Riggio MC, Mazzucchelli F, Girotti F, Pietrini V, Mariotti C, Di Donato S. Pareyson D, et al. Among authors: mariotti c. J Neurol. 1999 May;246(5):389-93. doi: 10.1007/s004150050369. J Neurol. 1999. PMID: 10399872

7

Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.

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. Filla A, et al. Among authors: mariotti c. Eur Neurol. 2000;44(1):31-6. doi: 10.1159/000008189. Eur Neurol. 2000. PMID: 10894992

8

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.

Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, Silani V, Marconi R, Tezzon F, Siciliano G, Marchini C, Gellera C, Donato SD. Mariotti C, et al. Neuromuscul Disord. 2000 Aug;10(6):391-7. doi: 10.1016/s0960-8966(99)00132-7. Neuromuscul Disord. 2000. PMID: 10899444

9

Chronic inflammatory demyelinating polyradiculoneuropathy: long-term course and treatment of 60 patients.

Sghirlanzoni A, Solari A, Ciano C, Mariotti C, Fallica E, Pareyson D. Sghirlanzoni A, et al. Among authors: mariotti c. Neurol Sci. 2000 Feb;21(1):31-7. doi: 10.1007/s100720070116. Neurol Sci. 2000. PMID: 10938200 Clinical Trial.

10

Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.

Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, Di Donato S. Mariotti C, et al. Neurology. 2001 Oct 23;57(8):1502-4. doi: 10.1212/wnl.57.8.1502. Neurology. 2001. PMID: 11673601

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