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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 1
2010 1
2011 2
2012 2
2013 1
2014 1
2015 15
2016 10
2017 10
2018 4
2019 1
2020 2
2021 7
2022 6
2023 6
2024 1

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58 results

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Page 1
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: tetreault m. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
Novel NALCN variant linked to temporal lobe epilepsy.
Nguyen E, Tétreault M, Toffa DH, Cossette P, Samarut É, Nguyen DK. Nguyen E, et al. Among authors: tetreault m. Am J Med Genet A. 2023 Jul;191(7):1942-1947. doi: 10.1002/ajmg.a.63209. Epub 2023 Apr 12. Am J Med Genet A. 2023. PMID: 37046053
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. Gauquelin L, et al. Among authors: tetreault m. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.
Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?
Fournier S, Dauvilliers Y, Warby SC, Labrecque M, Zadra A, Boucetta S, El Gewely M, Kaddioui H, Lopez R, Montplaisir JY, Bareke E, Tétreault M, Desautels A. Fournier S, et al. Among authors: tetreault m. J Sleep Res. 2022 Aug;31(4):e13537. doi: 10.1111/jsr.13537. Epub 2021 Dec 15. J Sleep Res. 2022. PMID: 34913218
Usage of Genetic Panels in an Adult Epilepsy Clinic.
Li J, Toffa DH, Lefèbvre M, Tétreault M, Cossette P, Samarut É, Nguyen DK. Li J, et al. Among authors: tetreault m. Can J Neurol Sci. 2023 May;50(3):411-417. doi: 10.1017/cjn.2022.49. Epub 2022 Apr 28. Can J Neurol Sci. 2023. PMID: 35478072
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, O'Ferrall E, Tétreault M. Mezreani J, et al. Among authors: tetreault m. NPJ Genom Med. 2022 Jun 7;7(1):36. doi: 10.1038/s41525-022-00307-y. NPJ Genom Med. 2022. PMID: 35672413 Free PMC article.
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing.
Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. Nicolau S, et al. Among authors: tetreault m. Can J Neurol Sci. 2021 Mar;48(2):293-296. doi: 10.1017/cjn.2020.141. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646536 No abstract available.
58 results