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

Results by year

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

Year Number of Results
1993 1
2002 3
2003 9
2004 9
2005 6
2006 9
2007 4
2008 5
2009 6
2010 10
2011 9
2012 8
2013 13
2014 7
2015 8
2016 8
2017 6
2018 3
2019 9
2020 13
2021 10
2022 3
2023 8
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

147 results

Results by year

Filters applied: . Clear all
Page 1
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL. Tokatly Latzer I, et al. Among authors: gibson km. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. J Neurodev Disord. 2024. PMID: 38658850 Free PMC article.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: gibson km. Mol Genet Metab. 2024 Mar 4;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Online ahead of print. Mol Genet Metab. 2024. PMID: 38452608
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Papadelis C, Ntolkeras G, Tokatly Latzer I, DiBacco ML, Afacan O, Warfield S, Shi X, Roullet JB, Gibson KM; SSADH Deficiency Investigators Consortium; Pearl PL. Papadelis C, et al. Among authors: gibson km. Brain Commun. 2023 Oct 25;5(6):fcad291. doi: 10.1093/braincomms/fcad291. eCollection 2023. Brain Commun. 2023. PMID: 37953848 Free PMC article.
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Bertoldi M, Pearl PL. Latzer IT, et al. Among authors: gibson km. Res Sq [Preprint]. 2023 Jul 10:rs.3.rs-3111263. doi: 10.21203/rs.3.rs-3111263/v1. Res Sq. 2023. PMID: 37503297 Free PMC article. Updated. Preprint.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: gibson km. J Inherit Metab Dis. 2023 Jul 16. doi: 10.1002/jimd.12657. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37455357 Review.
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, DiBacco ML, Arning E, Tsuboyama M, MacMullin P, Sachee D, Rotenberg A, Lee HHC, Aygun D, Opladen T, Jeltsch K, García-Cazorla À, Roullet JB, Gibson KM, Pearl PL. Tokatly Latzer I, et al. Among authors: gibson km. Epilepsia. 2023 Jun;64(6):1516-1526. doi: 10.1111/epi.17592. Epub 2023 Apr 4. Epilepsia. 2023. PMID: 36961285
147 results