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2008 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.  Neuromuscul Disord. 2008 Mar 10; Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat
Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome. (2008): Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M.
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression. Nat Genet. 2008 Jan;40(1):61-8. Epub 2007 Dec 16. Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS.
Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol. 2007 Jun;61(6):599-603. Meijer IA, Dion P, Laurent S, Dupre N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA.
2006 Myotonia congenita--a cause of muscle weakness and stiffness. Nat Clin Pract Neurol. 2006 Jul;2(7):393-9; quiz following 399. Chrestian N, Puymirat J, Bouchard JP, Dupre N.
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology. 2006 Apr 25;66(8):1248-50. Arsenault ME, Prevost C, Lescault A, Laberge C, Puymirat J, Mathieu J.
RNA based gene therapy for dominantly inherited diseases. Curr Gene Ther. 2006 Feb;6(1):131-46. Review. Pelletier R, Caron SO, Puymirat J.
2005 HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res. 2005 Jul 15;33(12):3866-74. Print 2005. Kim DH, Langlois MA, Lee KB, Riggs AD, Puymirat J, Rossi JJ.
Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. J Biol Chem. 2005 Apr 29;280(17):16949-54. Epub 2005 Feb 18. Langlois MA, Boniface C, Wang G, Alluin J, Salvaterra PM, Puymirat J, Rossi JJ, Lee NS.

Human genetic department

2705,  Laurier Boulevard. RC-9300. Quebec (Quebec) Canada. G1V 4G2. Phone: +1 (418) 654-2186. Fax: +1 (418) 654-2207.

E-mail: sec.genetique@crchul.ulaval.ca

Institut de Réadaptation en Déficience Physique de Québec

525, Hamel Boulevard . Quebec (Quebec) G1M 2S8

Phone : 418-529-9141


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