Mariotti C - Search Results

1

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A. Cagnoli C, et al. Among authors: mariotti c. Brain. 2006 Jan;129(Pt 1):235-42. doi: 10.1093/brain/awh651. Epub 2005 Oct 26. Brain. 2006. PMID: 16251216

2

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M. Mariotti C, et al. J Neurol. 1995 May;242(5):304-12. doi: 10.1007/BF00878873. J Neurol. 1995. PMID: 7643139

3

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. Zeviani M, et al. Among authors: mariotti c. Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390. Eur J Hum Genet. 1993. PMID: 8069654

4

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

5

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

6

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

7

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

8

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

9

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C. Gellera C, et al. Among authors: mariotti c. Neuromuscul Disord. 2001 May;11(4):404-10. doi: 10.1016/s0960-8966(00)00215-7. Neuromuscul Disord. 2001. PMID: 11369193

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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