243 related articles for article (PubMed ID: 22722631)
1. GABAB-ergic motor cortex dysfunction in SSADH deficiency.
Reis J; Cohen LG; Pearl PL; Fritsch B; Jung NH; Dustin I; Theodore WH
Neurology; 2012 Jul; 79(1):47-54. PubMed ID: 22722631
[TBL] [Abstract][Full Text] [Related]
2. Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.
Tsuboyama M; Liu J; Kaye H; DiBacco M; Pearl PL; Rotenberg A
J Child Neurol; 2021 Nov; 36(13-14):1169-1176. PubMed ID: 34058900
[TBL] [Abstract][Full Text] [Related]
3. 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
J Neurodev Disord; 2024 Apr; 16(1):21. PubMed ID: 38658850
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
Buzzi A; Wu Y; Frantseva MV; Perez Velazquez JL; Cortez MA; Liu CC; Shen LQ; Gibson KM; Snead OC
Brain Res; 2006 May; 1090(1):15-22. PubMed ID: 16647690
[TBL] [Abstract][Full Text] [Related]
6. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.
Ahmadi ZZ; DiBacco ML; Pearl PL
J Child Neurol; 2021 Nov; 36(13-14):1210-1217. PubMed ID: 33757330
[TBL] [Abstract][Full Text] [Related]
7. Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
Di Rosa G; Malaspina P; Blasi P; Dionisi-Vici C; Rizzo C; Tortorella G; Crutchfield SR; Gibson KM
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1(Suppl 1):S201-5. PubMed ID: 19484191
[TBL] [Abstract][Full Text] [Related]
8. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Brown M; Ashcraft P; Arning E; Bottiglieri T; McClintock W; Giancola F; Lieberman D; Hauser NS; Miller R; Roullet JB; Pearl P; Gibson KM
Mol Genet Genomic Med; 2019 May; 7(5):e629. PubMed ID: 30829465
[TBL] [Abstract][Full Text] [Related]
9. Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
Wang P; Cai F; Cao L; Wang Y; Zou Q; Zhao P; Wang C; Zhang Y; Cai C; Shu J
BMC Med Genet; 2019 May; 20(1):88. PubMed ID: 31117962
[TBL] [Abstract][Full Text] [Related]
10. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.
Afacan O; Yang E; Lin AP; Coello E; DiBacco ML; Pearl PL; Warfield SK; Consortium SDI
J Child Neurol; 2021 Nov; 36(13-14):1162-1168. PubMed ID: 33557675
[TBL] [Abstract][Full Text] [Related]
11. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
Pearl PL; Gibson KM; Quezado Z; Dustin I; Taylor J; Trzcinski S; Schreiber J; Forester K; Reeves-Tyer P; Liew C; Shamim S; Herscovitch P; Carson R; Butman J; Jakobs C; Theodore W
Neurology; 2009 Aug; 73(6):423-9. PubMed ID: 19667317
[TBL] [Abstract][Full Text] [Related]
12. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
Knerr I; Pearl PL; Bottiglieri T; Snead OC; Jakobs C; Gibson KM
J Inherit Metab Dis; 2007 Jun; 30(3):279-94. PubMed ID: 17457693
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A Missense Variant in
Vernau KM; Struys E; Letko A; Woolard KD; Aguilar M; Brown EA; Cissell DD; Dickinson PJ; Shelton GD; Broome MR; Gibson KM; Pearl PL; König F; Van Winkle TJ; O'Brien D; Roos B; Matiasek K; Jagannathan V; Drögemüller C; Mansour TA; Brown CT; Bannasch DL
Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887425
[TBL] [Abstract][Full Text] [Related]
16. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Menduti G; Biamino E; Vittorini R; Vesco S; Puccinelli MP; Porta F; Capo C; Leo S; Ciminelli BM; Iacovelli F; Spada M; Falconi M; Malaspina P; Rossi L
Mol Genet Metab; 2018 Jul; 124(3):210-215. PubMed ID: 29895405
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. SSADH deficiency possibly associated with enzyme activity-reducing SNPs.
Akiyama T; Osaka H; Shimbo H; Kuhara T; Shibata T; Kobayashi K; Kurosawa K; Yoshinaga H
Brain Dev; 2016 Oct; 38(9):871-4. PubMed ID: 27056292
[TBL] [Abstract][Full Text] [Related]
19. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.
Kim KJ; Pearl PL; Jensen K; Snead OC; Malaspina P; Jakobs C; Gibson KM
Antioxid Redox Signal; 2011 Aug; 15(3):691-718. PubMed ID: 20973619
[TBL] [Abstract][Full Text] [Related]
20. Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.
Vogel KR; Ainslie GR; McConnell A; Roullet JB; Gibson KM
Toxicol In Vitro; 2018 Feb; 46():203-212. PubMed ID: 29031482
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
