Puymirat J - Search Results

1

Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication.

Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Dupré N, et al. Among authors: puymirat j. Ann N Y Acad Sci. 1999 Oct;883(1):497-499. doi: 10.1111/j.1749-6632.1999.tb08620.x. Ann N Y Acad Sci. 1999. PMID: 29086976 No abstract available.

2

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication.

Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Dupré N, et al. Among authors: puymirat j. Can J Neurol Sci. 1999 Aug;26(3):196-200. doi: 10.1017/s031716710000024x. Can J Neurol Sci. 1999. PMID: 10451742

3

Phenotypic manifestations in French-Canadian populations with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication.

Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Dupré N, et al. Among authors: puymirat j. Ann N Y Acad Sci. 1999 Sep 14;883:497-9. Ann N Y Acad Sci. 1999. PMID: 10586283 No abstract available.

4

A founder mutation in French-Canadian families with X-linked hereditary neuropathy.

Dupré N, Cossette L, Hand CK, Bouchard JP, Rouleau GA, Puymirat J. Dupré N, et al. Among authors: puymirat j. Can J Neurol Sci. 2001 Feb;28(1):51-5. doi: 10.1017/s0317167100052550. Can J Neurol Sci. 2001. PMID: 11252295

5

Myotonia congenita--a cause of muscle weakness and stiffness.

Chrestian N, Puymirat J, Bouchard JP, Dupré N. Chrestian N, et al. Among authors: puymirat j. Nat Clin Pract Neurol. 2006 Jul;2(7):393-9; quiz following 399. doi: 10.1038/ncpneuro0239. Nat Clin Pract Neurol. 2006. PMID: 16932590

6

Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases.

Bouchard JP, Cossette L, Bassez G, Puymirat J. Bouchard JP, et al. Among authors: puymirat j. J Neurol. 2015 Feb;262(2):285-93. doi: 10.1007/s00415-014-7570-x. Epub 2014 Nov 8. J Neurol. 2015. PMID: 25380585

7

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J. Dupré N, et al. Among authors: puymirat j. Neuromuscul Disord. 2009 May;19(5):330-4. doi: 10.1016/j.nmd.2008.01.007. Epub 2008 Mar 11. Neuromuscul Disord. 2009. PMID: 18337100

8

Red blood cell Cu/Zn superoxide dismutase activity in sporadic amyotrophic lateral sclerosis.

Puymirat J, Cossette L, Gosselin F, Bouchard JP. Puymirat J, et al. J Neurol Sci. 1994 Dec 1;127(1):121-3. doi: 10.1016/0022-510x(94)90145-7. J Neurol Sci. 1994. PMID: 7699387

9

Characterization of a 54-kilodalton human protein kinase recognized by an antiserum raised against the myotonin kinase.

Etongué-Mayer P, Faure R, Bouchard JP, Puymirat J. Etongué-Mayer P, et al. Among authors: puymirat j. Muscle Nerve. 1998 Jan;21(1):8-17. doi: 10.1002/(sici)1097-4598(199801)21:1<8::aid-mus2>3.0.co;2-g. Muscle Nerve. 1998. PMID: 9427218

10

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: puymirat 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

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