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Page 1
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L. Rafiq MA, et al. Among authors: leblond cs. BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0. BMC Med Genet. 2015. PMID: 26104215 Free PMC article.
Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.
Gan-Or Z, Zhou S, Ambalavanan A, Leblond CS, Xie P, Johnson A, Spiegelman D, Allen RP, Earley CJ, Desautels A, Montplaisir JY, Dion PA, Xiong L, Rouleau GA. Gan-Or Z, et al. Among authors: leblond cs. Sleep Med. 2015 Sep;16(9):1151-5. doi: 10.1016/j.sleep.2015.06.002. Epub 2015 Jun 17. Sleep Med. 2015. PMID: 26298793
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.
Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA. Leblond CS, et al. Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28. Neurobiol Aging. 2016. PMID: 26493020
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA, Gan-Or Z. Ross JP, et al. Among authors: leblond cs. Neurobiol Aging. 2016 Sep;45:212.e13-212.e17. doi: 10.1016/j.neurobiolaging.2016.04.023. Epub 2016 May 3. Neurobiol Aging. 2016. PMID: 27236598 Free article.
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA, Gan-Or Z. Li J, et al. Among authors: leblond cs. Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14. Mov Disord. 2018. PMID: 29756641 Free article.
Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA. Schmouth JF, et al. Among authors: leblond cs. Mol Neurobiol. 2019 Jun;56(6):4317-4321. doi: 10.1007/s12035-018-1369-1. Epub 2018 Oct 12. Mol Neurobiol. 2019. PMID: 30315477
No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.
Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, Rouleau GA. Houle G, et al. Among authors: leblond cs. Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 30584593 Free PMC article.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z. Alcalay RN, et al. Among authors: leblond cs. Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20. Mov Disord. 2019. PMID: 30788890 Free PMC article.
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
Ross JP, Leblond CS, Laurent SB, Spiegelman D, Dionne-Laporte A, Camu W, Dupré N, Dion PA, Rouleau GA. Ross JP, et al. Among authors: leblond cs. Neurogenetics. 2020 Jul;21(3):227-242. doi: 10.1007/s10048-020-00612-7. Epub 2020 May 8. Neurogenetics. 2020. PMID: 32385536
66 results