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TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia.
Sidibé H, Khalfallah Y, Xiao S, Gómez NB, Fakim H, Tank EMH, Di Tomasso G, Bareke E, Aulas A, McKeever PM, Melamed Z, Destroimaisons L, Deshaies JE, Zinman L, Parker JA, Legault P, Tétreault M, Barmada SJ, Robertson J, Vande Velde C. Sidibé H, et al. Among authors: bareke e. Brain. 2021 Dec 16;144(11):3461-3476. doi: 10.1093/brain/awab217. Brain. 2021. PMID: 34115105 Free PMC article.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. Vasli N, et al. Among authors: bareke e. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.
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: bareke e. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.
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: bareke e. 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.
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: bareke e. J Sleep Res. 2022 Aug;31(4):e13537. doi: 10.1111/jsr.13537. Epub 2021 Dec 15. J Sleep Res. 2022. PMID: 34913218
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: bareke e. 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.
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: bareke e. Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12. Clin Genet. 2018. PMID: 28708278
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
Smith A, Bulman DE, Goldsmith C, Bareke E; FORGE Canada Consortium; Majewski J, Boycott KM, Nikkel SM. Smith A, et al. Among authors: bareke e. Eur J Hum Genet. 2015 Jul;23(7):990-2. doi: 10.1038/ejhg.2014.236. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370039 Free PMC article.
50 results