Richter A - Search Results

1

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.

2

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.

Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. Chagnon P, et al. Among authors: richter a. Am J Hum Genet. 2002 Dec;71(6):1443-9. doi: 10.1086/344580. Epub 2002 Nov 4. Am J Hum Genet. 2002. PMID: 12417987 Free PMC article.

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

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

5

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

6

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

7

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

8

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Bétard C, et al. Among authors: richter a. Am J Hum Genet. 2000 Jul;67(1):222-8. doi: 10.1086/302993. Epub 2000 May 11. Am J Hum Genet. 2000. PMID: 10820129 Free PMC article.

9

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A. Mercier J, et al. Among authors: richter a. Genet Test. 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. Genet Test. 2001. PMID: 11788093

10

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.

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