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

My NCBI Filters
Results by year

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

Year Number of Results
1996 2
1997 1
1998 1
1999 2
2000 1
2001 1
2002 1
2003 1
2004 4
2005 3
2006 1
2007 4
2008 2
2009 4
2010 2
2011 2
2012 5
2013 6
2014 4
2015 4
2016 7
2018 5
2019 8
2020 6
2021 2
2022 5
2023 0
Text availability
Article attribute
Article type
Publication date

Search Results

73 results
Results by year
Filters applied: . Clear all
Page 1
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS. Ahring PK, et al. Brain. 2022 May 24;145(4):1299-1309. doi: 10.1093/brain/awab391. Brain. 2022. PMID: 34633442 Free PMC article.
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK. Absalom NL, et al. Among authors: ahring pk. Nat Commun. 2022 Apr 5;13(1):1822. doi: 10.1038/s41467-022-29280-x. Nat Commun. 2022. PMID: 35383156 Free PMC article.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Among authors: ahring pk. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499
The flavonoid, 2'-methoxy-6-methylflavone, affords neuroprotection following focal cerebral ischaemia.
Clarkson AN, Boothman-Burrell L, Dósa Z, Nagaraja RY, Jin L, Parker K, van Nieuwenhuijzen PS, Neumann S, Gowing EK, Gavande N, Ahring PK, Holm MM, Hanrahan JR, Nicolazzo JA, Jensen K, Chebib M. Clarkson AN, et al. Among authors: ahring pk. J Cereb Blood Flow Metab. 2019 Jul;39(7):1266-1282. doi: 10.1177/0271678X18755628. Epub 2018 Jan 29. J Cereb Blood Flow Metab. 2019. PMID: 29376464 Free PMC article.
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Absalom NL, Liao VWY, Kothur K, Indurthi DC, Bennetts B, Troedson C, Mohammad SS, Gupta S, McGregor IS, Bowen MT, Lederer D, Mary S, De Waele L, Jansen K, Gill D, Kurian MA, McTague A, Møller RS, Ahring PK, Dale RC, Chebib M. Absalom NL, et al. Among authors: ahring pk. Brain Commun. 2020 Oct 1;2(2):fcaa162. doi: 10.1093/braincomms/fcaa162. eCollection 2020. Brain Commun. 2020. PMID: 33585817 Free PMC article.
73 results