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

Year Number of Results
1978 1
1979 1
1981 1
1982 1
1983 4
1984 1
1985 3
1986 5
1987 1
1988 1
1989 4
1990 1
1991 2
1993 2
1994 3
1995 2
1996 2
1997 2
1998 1
1999 3
2000 1
2001 1
2002 3
2003 2
2004 2
2008 1
2009 3
2011 1
2012 1
2014 4
2015 1
2016 4
2017 7
2018 4
2019 9
2020 11
2021 8
2022 2
2023 11
2024 4

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110 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: roullet jb. 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: roullet jb. 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
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Afshar-Saber W, Teaney NA, Winden KD, Jumo H, Shi X, McGinty G, Hubbs J, Chen C, Tokatly Latzer I, Gasparoli F, Ebrahimi-Fakhari D, Buttermore ED, Roullet JB, Pearl PL, Sahin M. Afshar-Saber W, et al. Among authors: roullet jb. Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub 2023 Dec 16. Neurobiol Dis. 2024. PMID: 38110041 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. Among authors: roullet jb. Brain Commun. 2023 Oct 25;5(6):fcad291. doi: 10.1093/braincomms/fcad291. eCollection 2023. Brain Commun. 2023. PMID: 37953848 Free PMC article.
Farnesol brain transcriptomics in CNS inflammatory demyelination.
Doyle WJ, Walters D, Shi X, Hoffman K, Magori K, Roullet JB, Ochoa-Repáraz J. Doyle WJ, et al. Among authors: roullet jb. Clin Immunol. 2023 Oct;255:109752. doi: 10.1016/j.clim.2023.109752. Epub 2023 Sep 4. Clin Immunol. 2023. PMID: 37673223
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: roullet jb. 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: roullet jb. J Inherit Metab Dis. 2023 Jul 16. doi: 10.1002/jimd.12657. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37455357 Review.
110 results