Bouchard JP - Search Results

1

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. Howard HC, et al. Among authors: bouchard jp. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7. Nat Genet. 2002. PMID: 12368912

2

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: bouchard jp. Eur J Hum Genet. 2002 Jul;10(7):406-12. doi: 10.1038/sj.ejhg.5200815. Eur J Hum Genet. 2002. PMID: 12107814

3

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: bouchard jp. Ann Neurol. 2003 Jul;54(1):9-18. doi: 10.1002/ana.77777. Ann Neurol. 2003. PMID: 12838516 Review.

4

[Severe neuropathy with agenesis of the corpus callosum].

Howard HC, Dupré N, Mathieu J, Bouchard JP, Rouleau GA. Howard HC, et al. Among authors: bouchard jp. Med Sci (Paris). 2003 Apr;19(4):414-6. doi: 10.1051/medsci/2003194414. Med Sci (Paris). 2003. PMID: 12836214 Free article. French. No abstract available.

5

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Gros-Louis F, et al. Among authors: bouchard jp. Nat Genet. 2007 Jan;39(1):80-5. doi: 10.1038/ng1927. Epub 2006 Dec 10. Nat Genet. 2007. PMID: 17159980

6

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA. Hand CK, et al. Among authors: bouchard jp. Arch Neurol. 2003 Dec;60(12):1768-71. doi: 10.1001/archneur.60.12.1768. Arch Neurol. 2003. PMID: 14676054

7

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.

Dupré N, Bouchard JP, Brais B, Rouleau GA. Dupré N, et al. Among authors: bouchard jp. Can J Neurol Sci. 2006 May;33(2):149-57. doi: 10.1017/s031716710000490x. Can J Neurol Sci. 2006. PMID: 16736723 Review.

8

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. Kabashi E, et al. Among authors: bouchard jp. Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30. Nat Genet. 2008. PMID: 18372902

9

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA. Belzil VV, et al. Among authors: bouchard jp. J Hum Genet. 2011 Mar;56(3):247-9. doi: 10.1038/jhg.2010.162. Epub 2010 Dec 16. J Hum Genet. 2011. PMID: 21160488

10

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA. Valdmanis PN, et al. Among authors: bouchard jp. Arch Neurol. 2007 Feb;64(2):240-5. doi: 10.1001/archneur.64.2.240. Arch Neurol. 2007. PMID: 17296840

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