J P Bouchard
Overview
Explore the profile of J P Bouchard including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
88
Citations
1555
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Thiffault I, Dicaire M, Tetreault M, Huang K, Demers-Lamarche J, Bernard G, et al.
Can J Neurol Sci
. 2012 Dec;
40(1):61-6.
PMID: 23250129
Background: The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of...
2.
Tetreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, et al.
Can J Neurol Sci
. 2011 Aug;
38(5):747-52.
PMID: 21856579
Background: We have recruited a group of four living and reviewed the records of six deceased distantly related French-Canadians of Acadian descent affected by a childhood-onset form of recessive limb-girdle...
3.
Lauf P, Adragna N, Dupre N, Bouchard J, Rouleau G
Biochem Cell Biol
. 2007 Jan;
84(6):1034-44.
PMID: 17215889
Red blood cells (RBCs) possess the K-Cl cotransport (KCC) isoforms 1, 3, and 4. Mutations within a given isoform may affect overall KCC activity. In a double-blind study, we analyzed,...
4.
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
Jarry J, Rioux M, Bolduc V, Robitaille Y, Khoury V, Thiffault I, et al.
Brain
. 2006 Sep;
130(Pt 2):368-80.
PMID: 17008331
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of pathologies. We have identified a cohort of 14 French-Canadian patients from eight different families displaying a novel form of LGMD with...
5.
Thiffault I, Rioux M, Tetreault M, Jarry J, Loiselle L, Poirier J, et al.
Brain
. 2006 May;
129(Pt 9):2332-40.
PMID: 16672289
Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families affected by an autosomal recessive spastic ataxia associated with frequent...
6.
Mercier J, Prevost C, Engert J, Bouchard J, Mathieu J, Richter A
Genet Test
. 2002 Jan;
5(3):255-9.
PMID: 11788093
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS; MIM SACS 270550) is frequent in northeastern Québec. Two causal mutations have been identified in the 11.7-kb single exon sacsin gene by sequence-based...
7.
Dyment D, Willer C, Scott B, Armstrong H, Ligers A, Hillert J, et al.
Neurogenetics
. 2001 Aug;
3(3):145-51.
PMID: 11523565
Four published genome screens have identified a number of markers with increased sharing in multiple sclerosis (MS) families, although none has reached statistical significance. One hundred and five markers previously...
8.
Dupre N, Cossette L, Hand C, Bouchard J, Rouleau G, Puymirat J
Can J Neurol Sci
. 2001 Mar;
28(1):51-5.
PMID: 11252295
Background: The aim of the present study was to identify the mutations in the connexin 32 gene in French-Canadian families with X-linked Charcot-Marie-Tooth disease (CMTX). Methods: Molecular analysis was performed...
9.
Blumen S, Korczyn A, Lavoie H, Medynski S, Chapman J, Asherov A, et al.
Neurology
. 2000 Nov;
55(9):1267-70.
PMID: 11087766
Objective: To determine whether all cases of oculopharyngeal muscular dystrophy (OPMD) among Bukhara Jews share the same founder mutation. Background: Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion...
10.
Brais B, Rouleau G, Bouchard J, Fardeau M, Tome F
Semin Neurol
. 2000 Mar;
19(1):59-66.
PMID: 10711989
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. It usually presents in the fifth or sixth decades with progressive dysphagia, eyelid ptosis, and proximal limb...