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

Year Number of Results
1993 1
2001 1
2002 3
2003 9
2004 6
2005 5
2006 6
2007 2
2008 7
2009 4
2010 3
2011 6
2012 8
2013 12
2014 12
2015 9
2016 19
2017 13
2018 14
2019 4
2020 17
2021 27
2022 14
2023 28
2024 11

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216 results

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Page 1
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Afshar-Saber W, Chen C, Teaney NA, Kim K, Yang Z, Gasparoli FM, Ebrahimi-Fakhari D, Buttermore ED, Pin-Fang Chen I, Pearl PL, Sahin M. Afshar-Saber W, et al. Among authors: pearl pl. Stem Cell Res. 2024 Apr 21;77:103424. doi: 10.1016/j.scr.2024.103424. Online ahead of print. Stem Cell Res. 2024. PMID: 38677032 Free article.
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: pearl pl. 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: pearl pl. 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
Treatable inherited metabolic epilepsies.
Latzer IT, Pearl PL. Latzer IT, et al. Among authors: pearl pl. Epilepsy Behav. 2024 Feb;151:109621. doi: 10.1016/j.yebeh.2024.109621. Epub 2024 Jan 17. Epilepsy Behav. 2024. PMID: 38237465 Review.
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: pearl pl. 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.
216 results