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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. 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. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. Mol Genet Metab. 2024. PMID: 38452608 Free PMC article.
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.
Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, García-Cazorla À, Juliá-Palacios N, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Mol Genet Metab. 2025 Mar;144(3):109051. doi: 10.1016/j.ymgme.2025.109051. Epub 2025 Feb 4. Mol Genet Metab. 2025. PMID: 39919676
Leveraging expertise and optimizing clinical research: Initial success of a pediatric epilepsy surgery collaborative.
Berl MM, Koop JI, Ailion A, Bearden DJ, Boyer K, Cooper CM, Decrow AM, Duong PH, Espe-Pfeifer P, Gabriel M, Hodges E, Marshall DF, McNally KA, Molnar AE, Olsen EK, Ono KE, Patrick KE, Paul BM, Romain J, Sepeta LN, Stilp RLH, Wilkening GN, Zaccariello M, Zelko F, Perry MS; PERC Surgery Workgroup. Berl MM, et al. Epilepsia. 2023 Jun;64(6):1554-1567. doi: 10.1111/epi.17579. Epub 2023 Mar 24. Epilepsia. 2023. PMID: 36897767
Age-related phenotype and biomarker changes in SSADH deficiency.
DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL. DiBacco ML, et al. Ann Clin Transl Neurol. 2018 Dec 3;6(1):114-120. doi: 10.1002/acn3.696. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656189 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. Res Sq [Preprint]. 2023 Jul 10:rs.3.rs-3111263. doi: 10.21203/rs.3.rs-3111263/v1. Res Sq. 2023. Update in: Hum Genet. 2023 Dec;142(12):1755-1776. doi: 10.1007/s00439-023-02613-6. PMID: 37503297 Free PMC article. Updated. Preprint.
25 results