Mariotti C - Search Results

1

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C. Mantuano E, et al. Among authors: mariotti c. J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2. J Neurol Sci. 2010. PMID: 20129625

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

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

4

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

5

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

6

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

7

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

8

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.

Di Donato S, Gellera C, Mariotti C. Di Donato S, et al. Among authors: mariotti c. Neurol Sci. 2001 Jun;22(3):219-28. doi: 10.1007/s100720100017. Neurol Sci. 2001. PMID: 11731874 Review.

9

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

Angelini L, Erba A, Mariotti C, Gellera C, Ciano C, Nardocci N. Angelini L, et al. Among authors: mariotti c. Mov Disord. 2002 May;17(3):612-4. doi: 10.1002/mds.10026. Mov Disord. 2002. PMID: 12112220

10

Cognitive and psychiatric characterization of patients with Huntington's disease and their at-risk relatives.

Soliveri P, Monza D, Piacentini S, Paridi D, Nespolo C, Gellera C, Mariotti C, Albanese A, Girotti F. Soliveri P, et al. Among authors: mariotti c. Neurol Sci. 2002 Sep;23 Suppl 2:S105-6. doi: 10.1007/s100720200091. Neurol Sci. 2002. PMID: 12548365

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