Gellera C - Search Results

1

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S. Corrado L, et al. Among authors: gellera c. Hum Mutat. 2009 Apr;30(4):688-94. doi: 10.1002/humu.20950. Hum Mutat. 2009. PMID: 19224587

2

Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme.

Taroni F, Gellera C, Di Donato S. Taroni F, et al. Among authors: gellera c. Biochim Biophys Acta. 1987 Dec 18;916(3):446-54. doi: 10.1016/0167-4838(87)90191-9. Biochim Biophys Acta. 1987. PMID: 3689803

3

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F. Verderio E, et al. Among authors: gellera c. Hum Mol Genet. 1995 Jan;4(1):19-29. doi: 10.1093/hmg/4.1.19. Hum Mol Genet. 1995. PMID: 7711730

4

Kennedy's disease: clinical and molecular study of two Italian families.

Pareyson D, Castellotti B, Botti S, Defanti CA, Gellera C, Taroni F, Sghirlanzoni A. Pareyson D, et al. Among authors: gellera c. Ital J Neurol Sci. 1995 Oct;16(7):467-71. doi: 10.1007/BF02229324. Ital J Neurol Sci. 1995. PMID: 8749704

5

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

Gellera C, Meoni C, Castellotti B, Zappacosta B, Girotti F, Taroni F, DiDonato S. Gellera C, et al. Am J Hum Genet. 1996 Aug;59(2):475-7. Am J Hum Genet. 1996. PMID: 8755937 Free PMC article. No abstract available.

6

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.

Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappacosta B, Pandolfo M, Di Donato S. Gellera C, et al. Neurology. 1997 Oct;49(4):1153-5. doi: 10.1212/wnl.49.4.1153. Neurology. 1997. PMID: 9339708

7

Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy.

Villani F, Gellera C, Spreafico R, Castellotti B, Casazza M, Carrara F, Avanzini G. Villani F, et al. Among authors: gellera c. Acta Neurol Scand. 1998 Nov;98(5):324-7. doi: 10.1111/j.1600-0404.1998.tb01742.x. Acta Neurol Scand. 1998. PMID: 9858102

8

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.

Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G. Wong A, et al. Among authors: gellera c. Hum Mol Genet. 1999 Mar;8(3):425-30. doi: 10.1093/hmg/8.3.425. Hum Mol Genet. 1999. PMID: 9949201

9

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: gellera c. J Neurol. 1999 May;246(5):389-93. doi: 10.1007/s004150050369. J Neurol. 1999. PMID: 10399872

10

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. Among authors: gellera c. Neuromuscul Disord. 2000 Aug;10(6):391-7. doi: 10.1016/s0960-8966(99)00132-7. Neuromuscul Disord. 2000. PMID: 10899444

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