Richter A - Search Results

1

Direct prenatal diagnosis of Friedreich's disease.

Richter A, Poirier J, Mercier J, Melançon SB. Richter A, et al. Prenat Diagn. 1993 Mar;13(3):219-20. doi: 10.1002/pd.1970130310. Prenat Diagn. 1993. PMID: 8506221 No abstract available.

2

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.

Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB. Richter A, et al. Am J Med Genet. 1996 Sep 6;64(4):594-601. doi: 10.1002/(SICI)1096-8628(19960906)64:4<594::AID-AJMG13>3.0.CO;2-C. Am J Med Genet. 1996. PMID: 8870928

3

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Richter A, Morgan K, Bouchard JP, Poirier J, Mercier J, Gosselin F, Melançon SB. Richter A, et al. Adv Neurol. 1993;61:97-103. Adv Neurol. 1993. PMID: 8421971 Review. No abstract available.

4

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.

5

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

6

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

Richter A, Rioux JD, Bouchard JP, Mercier J, Mathieu J, Ge B, Poirier J, Julien D, Gyapay G, Weissenbach J, Hudson TJ, Melançon SB, Morgan K. Richter A, et al. Am J Hum Genet. 1999 Mar;64(3):768-75. doi: 10.1086/302274. Am J Hum Genet. 1999. PMID: 10053011 Free PMC article.

7

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.

Gacy AM, Goellner GM, Spiro C, Chen X, Gupta G, Bradbury EM, Dyer RB, Mikesell MJ, Yao JZ, Johnson AJ, Richter A, Melançon SB, McMurray CT. Gacy AM, et al. Among authors: richter a. Mol Cell. 1998 Mar;1(4):583-93. doi: 10.1016/s1097-2765(00)80058-1. Mol Cell. 1998. PMID: 9660942 Free article.

8

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

Engert JC, Doré C, Mercier J, Ge B, Bétard C, Rioux JD, Owen C, Bérubé P, Devon K, Birren B, Melançon SB, Morgan K, Hudson TJ, Richter A. Engert JC, et al. Among authors: richter a. Genomics. 1999 Dec 1;62(2):156-64. doi: 10.1006/geno.1999.6003. Genomics. 1999. PMID: 10610707

9

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. Engert JC, et al. Among authors: richter a. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Nat Genet. 2000. PMID: 10655055

10

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

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