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Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Among authors: bourque pr. Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29. Hum Mol Genet. 2012. PMID: 22645277
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.
van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, Strengman E, Hennekam EA, Lindhout D, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: bourque pr. Neurology. 2009 Jan 20;72(3):287-8. doi: 10.1212/01.wnl.0000339487.84908.00. Neurology. 2009. PMID: 19153377 Free article. No abstract available.
Laryngospasm in amyotrophic lateral sclerosis.
Gotesman RD, Lalonde E, McKim DA, Bourque PR, Warman-Chardon J, Zwicker J, Breiner A. Gotesman RD, et al. Among authors: bourque pr. Muscle Nerve. 2022 Apr;65(4):400-404. doi: 10.1002/mus.27466. Epub 2021 Dec 21. Muscle Nerve. 2022. PMID: 34817079
Establishing a Canadian registry of patients with amyotrophic lateral sclerosis.
Korngut L, Genge A, Johnston M, Benstead T, Bourque P, Briemberg H, Casey A, D'Amour M, Dupré N, Figlewicz D, Hader W, Johnston W, Kalra S, Melanson M, O'Connell C, Rouleau G, Shoesmith C, Wee J, Zinman L. Korngut L, et al. Can J Neurol Sci. 2013 Jan;40(1):29-35. doi: 10.1017/s0317167100012919. Can J Neurol Sci. 2013. PMID: 23250124
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Bulman DE, Dyment DA, Boycott KM. Hartley T, et al. Among authors: bourque pr. Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12. Clin Genet. 2018. PMID: 28708278
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J. Kernohan KD, et al. Among authors: bourque pr. Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28. Hum Mutat. 2017. PMID: 28251733 Free PMC article.
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.
Hodgkinson V, Lounsberry J, M'Dahoma S, Russell A, Jewett G, Benstead T, Brais B, Campbell C, Johnston W, Lochmüller H, McCormick A, Nguyen CT, O'Ferrall E, Oskoui M, Abrahao A, Briemberg H, Bourque PR, Botez S, Cashman N, Chapman K, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Grant I, Hasal S, Izenberg A, Kalra S, Katzberg H, Krieger C, Leung E, Linassi G, Mackenzie A, Mah JK, Marrero A, Massie R, Matte G, McAdam L, McMillan H, Melanson M, Mezei MM, O'Connell C, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg K, Selby K, Sheriko J, Shoesmith C, Smith RG, Taillon M, Taylor S, Venance S, Warman-Chardon J, Worley S, Zinman L, Korngut L. Hodgkinson V, et al. Among authors: bourque pr. J Neuromuscul Dis. 2021;8(1):53-61. doi: 10.3233/JND-200538. J Neuromuscul Dis. 2021. PMID: 32925088 Free PMC article.
91 results