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Year Number of Results
2017 3
2018 6
2019 1
2020 3
2021 8
2022 7
2023 6
2024 2

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27 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
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium; Vanderver A, Bernard G. Perrier S, et al. Among authors: tetreault m. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21. Clin Genet. 2018. PMID: 28857146
Epineural optogenetic activation of nociceptors initiates and amplifies inflammation.
Michoud F, Seehus C, Schönle P, Brun N, Taub D, Zhang Z, Jain A, Furfaro I, Akouissi O, Moon R, Meier P, Galan K, Doyle B, Tetreault M, Talbot S, Browne LE, Huang Q, Woolf CJ, Lacour SP. Michoud F, et al. Among authors: tetreault m. Nat Biotechnol. 2021 Feb;39(2):179-185. doi: 10.1038/s41587-020-0673-2. Epub 2020 Sep 21. Nat Biotechnol. 2021. PMID: 32958958 Free PMC article.
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
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia.
Mahjoub A, Cihlarova Z, Tétreault M, MacNeil L, Sondheimer N, Caldecott KW, Hanzlikova H, Yoon G; Care4Rare Canada Consortium. Mahjoub A, et al. Among authors: tetreault m. Neurol Genet. 2019 Sep 4;5(5):e359. doi: 10.1212/NXG.0000000000000359. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31742228 Free PMC article.
27 results