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6. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. Lee HHC; Pearl PL; Rotenberg A J Child Neurol; 2021 Nov; 36(13-14):1200-1209. PubMed ID: 33624531 [TBL] [Abstract][Full Text] [Related]
7. Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Stewart LS; Nylen KJ; Persinger MA; Cortez MA; Gibson KM; Snead OC Epilepsy Behav; 2008 Aug; 13(2):290-4. PubMed ID: 18514581 [TBL] [Abstract][Full Text] [Related]
8. Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice. Vardya I; Drasbek KR; Gibson KM; Jensen K Exp Neurol; 2010 Sep; 225(1):114-22. PubMed ID: 20570675 [TBL] [Abstract][Full Text] [Related]
9. Age-related phenotype and biomarker changes in SSADH deficiency. DiBacco ML; Roullet JB; Kapur K; Brown MN; Walters DC; Gibson KM; Pearl PL Ann Clin Transl Neurol; 2019 Jan; 6(1):114-120. PubMed ID: 30656189 [TBL] [Abstract][Full Text] [Related]
10. Altered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cycling. Chowdhury GM; Gupta M; Gibson KM; Patel AB; Behar KL J Neurochem; 2007 Dec; 103(5):2077-91. PubMed ID: 17854388 [TBL] [Abstract][Full Text] [Related]
11. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Lee HHC; McGinty GE; Pearl PL; Rotenberg A Int J Mol Sci; 2022 Feb; 23(5):. PubMed ID: 35269750 [TBL] [Abstract][Full Text] [Related]
12. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Sauer SW; Kölker S; Hoffmann GF; Ten Brink HJ; Jakobs C; Gibson KM; Okun JG Neurochem Int; 2007 Mar; 50(4):653-9. PubMed ID: 17303287 [TBL] [Abstract][Full Text] [Related]
13. Effect of gene dosage on single-cell hippocampal electrophysiology in a murine model of SSADH deficiency (gamma-hydroxybutyric aciduria). Dósa Z; Nieto-Gonzalez JL; Korshoej AR; Gibson KM; Jensen K Epilepsy Res; 2010 Jun; 90(1-2):39-46. PubMed ID: 20363598 [TBL] [Abstract][Full Text] [Related]
14. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Vogel KR; Pearl PL; Theodore WH; McCarter RC; Jakobs C; Gibson KM J Inherit Metab Dis; 2013 May; 36(3):401-10. PubMed ID: 22739941 [TBL] [Abstract][Full Text] [Related]
15. Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Gupta M; Polinsky M; Senephansiri H; Snead OC; Jansen EE; Jakobs C; Gibson KM Neurobiol Dis; 2004 Aug; 16(3):556-62. PubMed ID: 15262267 [TBL] [Abstract][Full Text] [Related]
16. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Malaspina P; Roullet JB; Pearl PL; Ainslie GR; Vogel KR; Gibson KM Neurochem Int; 2016 Oct; 99():72-84. PubMed ID: 27311541 [TBL] [Abstract][Full Text] [Related]
17. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. Gibson KM; Jakobs C; Pearl PL; Snead OC IUBMB Life; 2005 Sep; 57(9):639-44. PubMed ID: 16203683 [TBL] [Abstract][Full Text] [Related]
18. SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex. Drasbek KR; Vardya I; Delenclos M; Gibson KM; Jensen K J Inherit Metab Dis; 2008 Dec; 31(6):662-8. PubMed ID: 18696252 [TBL] [Abstract][Full Text] [Related]
19. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Dervent A; Gibson KM; Pearl PL; Salomons GS; Jakobs C; Yalcinkaya C Clin Neurophysiol; 2004 Jun; 115(6):1417-22. PubMed ID: 15134710 [TBL] [Abstract][Full Text] [Related]
20. 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 Epilepsia; 2023 Jun; 64(6):1516-1526. PubMed ID: 36961285 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]