Chardon JW - Search Results

1

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. Huang L, et al. Among authors: chardon jw. Orphanet J Rare Dis. 2012 Sep 17;7:67. doi: 10.1186/1750-1172-7-67. Orphanet J Rare Dis. 2012. PMID: 22986007 Free PMC article.

2

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Dyment DA, et al. Among authors: chardon jw. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240

3

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM, Dyment DA. Chardon JW, et al. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26. Clin Genet. 2015. PMID: 25589244

4

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE; FORGE Canada Consortium; Suri M, Boycott KM. Armour CM, et al. Among authors: chardon jw. Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2. Am J Med Genet A. 2016. PMID: 27133561

5

Very late-onset Sandhoff disease presenting as Kennedy disease.

Chardon JW, Bourque PR, Geraghty MT, Boycott KM. Chardon JW, et al. Muscle Nerve. 2015 Dec;52(6):1135-6. doi: 10.1002/mus.24775. Muscle Nerve. 2015. PMID: 26769462 No abstract available.

6

Deletion of filamin A in two female patients with periventricular nodular heterotopia.

Chardon JW, Mignot C, Aradhya S, Keren B, Afenjar A, Kaminska A, Beldjord C, Héron D, Boycott KM. Chardon JW, et al. Am J Med Genet A. 2012 Jun;158A(6):1512-6. doi: 10.1002/ajmg.a.35409. Epub 2012 Apr 20. Am J Med Genet A. 2012. PMID: 22522697 No abstract available.

7

Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.

Chardon JW, Jasmin BJ, Kothary R, Parks RJ. Chardon JW, et al. J Neuromuscul Dis. 2016 Aug 30;3(3):431-442. doi: 10.3233/JND-169001. J Neuromuscul Dis. 2016. PMID: 27854234 Free PMC article. No abstract available.

8

Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology - September 5-7, 2017, Ottawa, Canada.

Chardon JW, Jasmin BJ, Kothary R, Parks RJ. Chardon JW, et al. J Neuromuscul Dis. 2018;5(4):539-552. doi: 10.3233/JND-180353. J Neuromuscul Dis. 2018. PMID: 30373960 No abstract available.

9

Autoimmune peripheral neuropathies.

Bourque PR, Chardon JW, Massie R. Bourque PR, et al. Among authors: chardon jw. Clin Chim Acta. 2015 Sep 20;449:37-42. doi: 10.1016/j.cca.2015.02.039. Epub 2015 Mar 4. Clin Chim Acta. 2015. PMID: 25748038 Review.

10

Subcutaneous Immunoglobulin Therapy in the Chronic Management of Myasthenia Gravis: A Retrospective Cohort Study.

Bourque PR, Pringle CE, Cameron W, Cowan J, Chardon JW. Bourque PR, et al. Among authors: chardon jw. PLoS One. 2016 Aug 4;11(8):e0159993. doi: 10.1371/journal.pone.0159993. eCollection 2016. PLoS One. 2016. PMID: 27490101 Free PMC article.

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