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

Year Number of Results
1996 2
1997 1
1998 2
1999 3
2000 3
2001 2
2002 7
2003 3
2004 1
2005 2
2006 1
2007 3
2008 2
2009 2
2010 1
2011 3
2012 1
2013 2
2014 1
2015 5
2017 3
2018 2
2019 5
2020 2
2021 3
2022 1
2023 1
2024 0

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PubMed for id: 51412

61 results

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Page 1
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M. Fichera M, et al. Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17. Hum Genet. 2019. PMID: 30656450 Clinical Trial.
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. Wenderski W, et al. Proc Natl Acad Sci U S A. 2020 May 5;117(18):10055-10066. doi: 10.1073/pnas.1908238117. Epub 2020 Apr 20. Proc Natl Acad Sci U S A. 2020. PMID: 32312822 Free PMC article.
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. 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.
The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory.
Vogel-Ciernia A, Matheos DP, Barrett RM, Kramár EA, Azzawi S, Chen Y, Magnan CN, Zeller M, Sylvain A, Haettig J, Jia Y, Tran A, Dang R, Post RJ, Chabrier M, Babayan AH, Wu JI, Crabtree GR, Baldi P, Baram TZ, Lynch G, Wood MA. Vogel-Ciernia A, et al. Nat Neurosci. 2013 May;16(5):552-61. doi: 10.1038/nn.3359. Epub 2013 Mar 24. Nat Neurosci. 2013. PMID: 23525042 Free PMC article.
Actin-related proteins.
Schafer DA, Schroer TA. Schafer DA, et al. Annu Rev Cell Dev Biol. 1999;15:341-63. doi: 10.1146/annurev.cellbio.15.1.341. Annu Rev Cell Dev Biol. 1999. PMID: 10611965 Review.
61 results