Monticelli A - Search Results

1

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. Filla A, et al. Among authors: monticelli a. Am J Hum Genet. 1996 Sep;59(3):554-60. Am J Hum Genet. 1996. PMID: 8751856 Free PMC article.

2

Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.

Pianese L, Busino L, De Biase I, De Cristofaro T, Lo Casale MS, Giuliano P, Monticelli A, Turano M, Criscuolo C, Filla A, Varrone S, Cocozza S. Pianese L, et al. Among authors: monticelli a. Hum Mol Genet. 2002 Nov 1;11(23):2989-96. doi: 10.1093/hmg/11.23.2989. Hum Mol Genet. 2002. PMID: 12393810

3

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, Cocozza S. Monticelli A, et al. Hum Genet. 2004 Apr;114(5):458-63. doi: 10.1007/s00439-004-1089-7. Epub 2004 Feb 7. Hum Genet. 2004. PMID: 14767759

4

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G, et al. De Michele G, et al. Among authors: monticelli a. J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):977-9. doi: 10.1136/jnnp.57.8.977. J Neurol Neurosurg Psychiatry. 1994. PMID: 8057123 Free PMC article.

5

Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.

Pianese L, Cocozza S, Campanella G, Castaldo I, Cavalcanti F, De Michele G, Filla A, Monticelli A, Munaro M, Redolfi E, et al. Pianese L, et al. Among authors: monticelli a. J Med Genet. 1994 Feb;31(2):133-5. doi: 10.1136/jmg.31.2.133. J Med Genet. 1994. PMID: 8182719 Free PMC article.

6

A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1.

Pandolfo M, Munaro M, Cocozza S, Redolfi EM, Pianese L, Cavalcanti F, Monticelli A, Di Donato S. Pandolfo M, et al. Among authors: monticelli a. Hum Mol Genet. 1993 Jun;2(6):822. doi: 10.1093/hmg/2.6.822. Hum Mol Genet. 1993. PMID: 8353506 No abstract available.

7

Evidence of a genetic marker associated with early onset in Friedreich's ataxia.

Cocozza S, Antonelli A, Campanella G, Cavalcanti F, De Michele G, Di Donato S, Filla A, Monticelli A, Pianese L, Piccinelli A, et al. Cocozza S, et al. Among authors: monticelli a. J Neurol. 1993;240(4):254-6. doi: 10.1007/BF00818715. J Neurol. 1993. PMID: 8496716

8

The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S. Pianese L, et al. Among authors: monticelli a. Am J Hum Genet. 1997 Feb;60(2):460-3. Am J Hum Genet. 1997. PMID: 9012421 Free PMC article. No abstract available.

9

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. Montermini L, et al. Among authors: monticelli a. Hum Mol Genet. 1997 Aug;6(8):1261-6. doi: 10.1093/hmg/6.8.1261. Hum Mol Genet. 1997. PMID: 9259271

10

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia.

Ragno M, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Curatola L, Bollettini F, Cocozza S, Caruso G, Santoro L, Filla A. Ragno M, et al. Among authors: monticelli a. Neurology. 1997 Dec;49(6):1617-20. doi: 10.1212/wnl.49.6.1617. Neurology. 1997. PMID: 9409356

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