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

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

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94 results

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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: arning e. 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.
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. 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: arning e. 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.
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: arning e. Epilepsia. 2023 Jun;64(6):1516-1526. doi: 10.1111/epi.17592. Epub 2023 Apr 4. Epilepsia. 2023. PMID: 36961285
Dysregulated DNA methylation in the pathogenesis of Fabry disease.
Shen JS, Balaji U, Shigeyasu K, Okugawa Y, Jabbarzadeh-Tabrizi S, Day TS, Arning E, Marshall J, Cheng SH, Gu J, Schiffmann R, Bottiglieri T, Goel A. Shen JS, et al. Among authors: arning e. Mol Genet Metab Rep. 2022 Sep 26;33:100919. doi: 10.1016/j.ymgmr.2022.100919. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36186841 Free PMC article.
94 results