Poirier J - 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. Among authors: poirier j. 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

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. Among authors: poirier j. Adv Neurol. 1993;61:97-103. Adv Neurol. 1993. PMID: 8421971 Review. No abstract available.

3

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. Among authors: poirier j. 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

4

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. Thiffault I, et al. Among authors: poirier j. Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3. Brain. 2006. PMID: 16672289

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: poirier j. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531

6

Direct prenatal diagnosis of Friedreich's disease.

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

7

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.

Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P. Kinirons P, et al. Among authors: poirier j. Am J Med Genet A. 2008 Mar 1;146A(5):578-84. doi: 10.1002/ajmg.a.32139. Am J Med Genet A. 2008. PMID: 18241056

8

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: poirier j. 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

9

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion.

Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, Pandolfo M. Labuda M, et al. Among authors: poirier j. Neurology. 2000 Jun 27;54(12):2322-4. doi: 10.1212/wnl.54.12.2322. Neurology. 2000. PMID: 10881262

10

Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat.

Poirier J, Ohshima K, Pandolfo M. Poirier J, et al. Hum Mutat. 1999;13(4):328-30. doi: 10.1002/(SICI)1098-1004(1999)13:4<328::AID-HUMU10>3.0.CO;2-J. Hum Mutat. 1999. PMID: 10220147 No abstract available.

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