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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. Among authors: richter a. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531
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: richter a. Hum Mol Genet. 1997 Aug;6(8):1261-6. doi: 10.1093/hmg/6.8.1261. Hum Mol Genet. 1997. PMID: 9259271
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.
Chamberlain S, Shaw J, Wallis J, Rowland A, Chow L, Farrall M, Keats B, Richter A, Roy M, Melancon S, et al. Chamberlain S, et al. Among authors: richter a. Am J Hum Genet. 1989 Apr;44(4):518-21. Am J Hum Genet. 1989. PMID: 2929596 Free PMC article.
Molecular analysis of the Friedreich's ataxia locus.
Chamberlain S, Koenig M, Richter A, Palau F, Pandolfo M. Chamberlain S, et al. Among authors: richter a. Adv Neurol. 1993;61:193-204. Adv Neurol. 1993. PMID: 8421969 Review. No abstract available.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB. Bouchard JP, et al. Among authors: richter a. Neuromuscul Disord. 1998 Oct;8(7):474-9. doi: 10.1016/s0960-8966(98)00055-8. Neuromuscul Disord. 1998. PMID: 9829277
Diversity of ARSACS mutations in French-Canadians.
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Among authors: richter a. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
2,064 results