Mariotti C - Search Results

1

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

2

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.

Zeviani M, Mariotti C, Antozzi C, Fratta GM, Rustin P, Prelle A. Zeviani M, et al. Among authors: mariotti c. Muscle Nerve Suppl. 1995;3:S170-4. doi: 10.1002/mus.880181433. Muscle Nerve Suppl. 1995. PMID: 7603520

3

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

4

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

5

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

6

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.

7

Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis.

Squitieri F, Berardelli A, Nargi E, Castellotti B, Mariotti C, Cannella M, Lavitrano ML, de Grazia U, Gellera C, Ruggieri S. Squitieri F, et al. Among authors: mariotti c. Clin Genet. 2000 Jul;58(1):50-6. doi: 10.1034/j.1399-0004.2000.580108.x. Clin Genet. 2000. PMID: 10945661

8

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

9

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

10

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M. Lamantea E, et al. Among authors: mariotti c. Neuromuscul Disord. 2002 Jan;12(1):49-52. doi: 10.1016/s0960-8966(01)00244-9. Neuromuscul Disord. 2002. PMID: 11731284

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