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Assessing non-Mendelian inheritance in inherited axonopathies.
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium; Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Bis-Brewer DM, et al. Among authors: boycott km. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741968 Free PMC article.
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Estiar MA, et al. Among authors: boycott km. Mov Disord. 2021 Jul;36(7):1664-1675. doi: 10.1002/mds.28528. Epub 2021 Feb 17. Mov Disord. 2021. PMID: 33598982
Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Among authors: boycott km. Parkinsonism Relat Disord. 2022 May;98:62-69. doi: 10.1016/j.parkreldis.2022.03.019. Epub 2022 Apr 16. Parkinsonism Relat Disord. 2022. PMID: 35487127
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G. Chrestian N, et al. Among authors: boycott km. Neurol Genet. 2016 Dec 5;3(1):e122. doi: 10.1212/NXG.0000000000000122. eCollection 2017 Feb. Neurol Genet. 2016. PMID: 27957547 Free PMC article.
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, Boycott KM, Yoon G. Gauquelin L, et al. Among authors: boycott km. Mov Disord Clin Pract. 2020 Sep 29;7(8):940-949. doi: 10.1002/mdc3.13086. eCollection 2020 Nov. Mov Disord Clin Pract. 2020. PMID: 33163565 Free PMC article.
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Hayeems RZ, Michaels-Igbokwe C, Venkataramanan V, Hartley T, Acker M, Gillespie M, Ungar WJ, Mendoza-Londona R, Bernier FP, Boycott KM, Marshall DA. Hayeems RZ, et al. Among authors: boycott km. Genet Med. 2022 Mar;24(3):694-702. doi: 10.1016/j.gim.2021.11.005. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906497 Free article.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD; Care4Rare Canada Consortium; Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM. Lemire G, et al. Among authors: boycott km. Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34587489 Free PMC article.
278 results