Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM. Bell S, et al. Among authors: kolobova i. Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25. Am J Hum Genet. 2019. PMID: 31031012 Free PMC article.
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Bell S, McCarty V, Peng H, Jefri M, Hettige N, Antonyan L, Crapper L, O'Leary LA, Zhang X, Zhang Y, Wu H, Sutcliffe D, Kolobova I, Rosenberger TA, Moquin L, Gratton A, Popic J, Gantois I, Stumpf PS, Schuppert AA, Mechawar N, Sonenberg N, Tremblay ML, Jinnah HA, Ernst C. Bell S, et al. Among authors: kolobova i. Stem Cell Reports. 2021 Jul 13;16(7):1749-1762. doi: 10.1016/j.stemcr.2021.06.003. Epub 2021 Jul 1. Stem Cell Reports. 2021. PMID: 34214487 Free PMC article.
Lesch-Nyhan Syndrome: Models, Theories, and Therapies.
Bell S, Kolobova I, Crapper L, Ernst C. Bell S, et al. Among authors: kolobova i. Mol Syndromol. 2016 Nov;7(6):302-311. doi: 10.1159/000449296. Epub 2016 Sep 24. Mol Syndromol. 2016. PMID: 27920633 Free PMC article. Review.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Maussion G, et al. Among authors: kolobova i. Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759917 Free PMC article.
A checklist for a consistent, comprehensive medication review.
Vaffis S, Dhatt H, Anderson E, Le D, Campbell PJ, Nelson M, Black H, Kolobova I, Axon DR, Warholak T. Vaffis S, et al. Among authors: kolobova i. J Am Pharm Assoc (2003). 2023 Sep-Oct;63(5):1504-1507.e1. doi: 10.1016/j.japh.2023.06.020. Epub 2023 Jun 30. J Am Pharm Assoc (2003). 2023. PMID: 37394060
It is time for a new comprehensive medication review quality measure.
Castora-Binkley M, Hines L, Vaffis S, Dhatt H, Anderson E, Le D, Black H, Campbell PJ, Kolobova I, Nelson M, Axon DR, Warholak T. Castora-Binkley M, et al. Among authors: kolobova i. J Manag Care Spec Pharm. 2023 Jun;29(6):680-684. doi: 10.18553/jmcp.2023.29.6.680. J Manag Care Spec Pharm. 2023. PMID: 37276042 Free PMC article.
24 results