Montermini L - Search Results

1

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.

Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M. Montermini L, et al. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531

2

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. Hum Mol Genet. 1997 Aug;6(8):1261-6. doi: 10.1093/hmg/6.8.1261. Hum Mol Genet. 1997. PMID: 9259271

3

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

Montermini L, Kish SJ, Jiralerspong S, Lamarche JB, Pandolfo M. Montermini L, et al. Neurology. 1997 Aug;49(2):606-10. doi: 10.1212/wnl.49.2.606. Neurology. 1997. PMID: 9270608

4

Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.

Geschwind DH, Perlman S, Grody WW, Telatar M, Montermini L, Pandolfo M, Gatti RA. Geschwind DH, et al. Among authors: montermini l. Neurology. 1997 Oct;49(4):1004-9. doi: 10.1212/wnl.49.4.1004. Neurology. 1997. PMID: 9339680

5

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.

Ohshima K, Montermini L, Wells RD, Pandolfo M. Ohshima K, et al. Among authors: montermini l. J Biol Chem. 1998 Jun 5;273(23):14588-95. doi: 10.1074/jbc.273.23.14588. J Biol Chem. 1998. PMID: 9603975 Free article.

6

A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.

Ohshima K, Sakamoto N, Labuda M, Poirier J, Moseley ML, Montermini L, Ranum LP, Wells RD, Pandolfo M. Ohshima K, et al. Among authors: montermini l. Neurology. 1999 Nov 10;53(8):1854-7. doi: 10.1212/wnl.53.8.1854. Neurology. 1999. PMID: 10563639

7

Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.

Jiralerspong S, Liu Y, Montermini L, Stifani S, Pandolfo M. Jiralerspong S, et al. Among authors: montermini l. Neurobiol Dis. 1997;4(2):103-13. doi: 10.1006/nbdi.1997.0139. Neurobiol Dis. 1997. PMID: 9331900

8

Molecular genetics of the hereditary ataxias.

Pandolfo M, Montermini L. Pandolfo M, et al. Among authors: montermini l. Adv Genet. 1998;38:31-68. doi: 10.1016/s0065-2660(08)60141-8. Adv Genet. 1998. PMID: 9677705 Review.

9

Prenatal diagnosis of Friedreich ataxia.

Pandolfo M, Montermini L. Pandolfo M, et al. Among authors: montermini l. Prenat Diagn. 1998 Aug;18(8):831-3. Prenat Diagn. 1998. PMID: 9742572 Review. No abstract available.

10

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: montermini l. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622

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