Mathieu J - Search Results

1

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B. Duquette A, et al. Among authors: mathieu j. Ann Neurol. 2005 Mar;57(3):408-14. doi: 10.1002/ana.20408. Ann Neurol. 2005. PMID: 15732101

2

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B. Gosselin I, et al. Among authors: mathieu j. Neuromuscul Disord. 2008 Jun;18(6):483-92. doi: 10.1016/j.nmd.2008.04.001. Epub 2008 Jun 3. Neuromuscul Disord. 2008. PMID: 18511281

3

Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.

Howard HC, Dubé MP, Prévost C, Bouchard JP, Mathieu J, Rouleau GA. Howard HC, et al. Among authors: mathieu j. Eur J Hum Genet. 2002 Jul;10(7):406-12. doi: 10.1038/sj.ejhg.5200815. Eur J Hum Genet. 2002. PMID: 12107814

4

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Dupré N, et al. Among authors: mathieu j. Ann Neurol. 2003 Jul;54(1):9-18. doi: 10.1002/ana.77777. Ann Neurol. 2003. PMID: 12838516 Review.

5

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. Srour M, et al. Among authors: mathieu j. Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17. Neuromuscul Disord. 2010. PMID: 20610155

6

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.

Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N. Pellerin D, et al. Among authors: mathieu j. Ann Neurol. 2020 Apr;87(4):568-583. doi: 10.1002/ana.25685. Epub 2020 Feb 8. Ann Neurol. 2020. PMID: 31970803 Free PMC article.

7

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: mathieu j. Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3. Brain. 2006. PMID: 16672289

8

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

Tétreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. Tétreault M, et al. Among authors: mathieu j. Brain. 2006 Aug;129(Pt 8):2077-84. doi: 10.1093/brain/awl146. Epub 2006 Jun 7. Brain. 2006. PMID: 16760198

9

Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1.

Puymirat J, Giguère Y, Mathieu J, Bouchard JP. Puymirat J, et al. Among authors: mathieu j. Neurology. 2009 Dec 15;73(24):2126-7. doi: 10.1212/WNL.0b013e3181c677e1. Neurology. 2009. PMID: 20018643 No abstract available.

10

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Duquette A, Brais B, Bouchard JP, Mathieu J. Duquette A, et al. Among authors: mathieu j. Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604. Epub 2013 Aug 2. Mov Disord. 2013. PMID: 23913799

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