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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: bourque p. Neuromuscul Disord. 2023 Feb;33(2):161-168. doi: 10.1016/j.nmd.2022.12.011. Epub 2022 Dec 22. Neuromuscul Disord. 2023. PMID: 36634413
Autoimmune peripheral neuropathies.
Bourque PR, Chardon JW, Massie R. Bourque PR, et al. 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.
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.
The CNDR: collaborating to translate new therapies for Canadians.
Korngut L, Campbell C, Johnston M, Benstead T, Genge A, Mackenzie A, McCormick A, Biggar D, Bourque P, Briemberg H, O'Connell C, Dojeiji S, Dooley J, Grant I, Hogan G, Johnston W, Kalra S, Katzberg HD, Mah JK, McAdam L, McMillan HJ, Melanson M, Selby K, Shoesmith C, Smith G, Venance SL, Wee J; CNDR Investigator Network. Korngut L, et al. Among authors: bourque p. Can J Neurol Sci. 2013 Sep;40(5):698-704. doi: 10.1017/s0317167100014943. Can J Neurol Sci. 2013. PMID: 23968944
Spontaneous thoracic spinal cord herniation.
Srinivasan A, Bourque P, Goyal M. Srinivasan A, et al. Among authors: bourque p. Neurology. 2004 Dec 14;63(11):2187. doi: 10.1212/01.wnl.0000140620.32658.0b. Neurology. 2004. PMID: 15596780 No abstract available.
Diagnosis and outcome of childhood perineurioma.
McMillan HJ, Torres C, Michaud J, Ying Y, Boyd KU, Bourque PR. McMillan HJ, et al. Among authors: bourque pr. Childs Nerv Syst. 2016 Aug;32(8):1555-60. doi: 10.1007/s00381-016-3089-z. Epub 2016 Apr 16. Childs Nerv Syst. 2016. PMID: 27086131
112 results