Published in J Child Neurol on May 05, 2010
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Neurocysticercosis: A natural human model of epileptogenesis. Epilepsia (2014) 2.11
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol Genet Metab (2013) 2.06
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat (2003) 1.86
A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype. Exp Neurol (2007) 1.82
Catabolism of 4-hydroxyacids and 4-hydroxynonenal via 4-hydroxy-4-phosphoacyl-CoAs. J Biol Chem (2009) 1.80
Low-field paramagnetic resonance imaging of tumor oxygenation and glycolytic activity in mice. J Clin Invest (2008) 1.71
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ann Neurol (2003) 1.67
A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics (2003) 1.64
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
The 5-HT1A receptor and 5-HT transporter in temporal lobe epilepsy. Neurology (2013) 1.51
Arginase plays a pivotal role in polyamine precursor metabolism in Leishmania. Characterization of gene deletion mutants. J Biol Chem (2004) 1.49
Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol (2006) 1.47
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat (2003) 1.42
Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol (2003) 1.41
Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol (2010) 1.39
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res (2006) 1.37
Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. Am J Psychiatry (2010) 1.34
Association of human herpesvirus-6B with mesial temporal lobe epilepsy. PLoS Med (2007) 1.32
From the street to the brain: neurobiology of the recreational drug gamma-hydroxybutyric acid. Trends Pharmacol Sci (2004) 1.31
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry (2003) 1.29
Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol (2003) 1.22
Targeting neural precursors in the adult brain rescues injured dopamine neurons. Proc Natl Acad Sci U S A (2009) 1.21
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest (2011) 1.19
Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. BMC Dev Biol (2008) 1.19
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev (2011) 1.16
5-HT 1A receptors are reduced in temporal lobe epilepsy after partial-volume correction. J Nucl Med (2005) 1.15
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. Epilepsia (2005) 1.15
Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). J Pharmacol Exp Ther (2002) 1.13
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol (2011) 1.12
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr (2008) 1.12
Increased in vivo expression of an inflammatory marker in temporal lobe epilepsy. J Nucl Med (2012) 1.12
Noninvasive imaging of the functional effects of anti-VEGF therapy on tumor cell extravasation and regional blood volume in an experimental brain metastasis model. Clin Exp Metastasis (2009) 1.10
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis (2010) 1.10
Inherited disorders of neurotransmitters in children and adults. Clin Biochem (2005) 1.09
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab (2002) 1.09
5-HT1A receptor binding in temporal lobe epilepsy patients with and without major depression. Biol Psychiatry (2007) 1.09
Epilepsy imaging study guideline criteria: commentary on diagnostic testing study guidelines and practice parameters. Epilepsia (2011) 1.09
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal (2011) 1.08
Adenoma detection rate increases with each decade of life after 50 years of age. Gastrointest Endosc (2011) 1.07
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
Mesenchymal stem cells primed with valproate and lithium robustly migrate to infarcted regions and facilitate recovery in a stroke model. Stroke (2011) 1.06
Early role of CD4+ Th1 cells and antibodies in HER-2 adenovirus vaccine protection against autochthonous mammary carcinomas. J Immunol (2005) 1.06
Gamma-hydroxybutyric acid: neurobiology and toxicology of a recreational drug. Toxicol Rev (2004) 1.06
Characterization of atypical language activation patterns in focal epilepsy. Ann Neurol (2014) 1.05
Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism. Mol Cell Biol (2002) 1.02
Chronic valproate treatment enhances postischemic angiogenesis and promotes functional recovery in a rat model of ischemic stroke. Stroke (2012) 1.01
Cediranib/AZD2171 inhibits bone and brain metastasis in a preclinical model of advanced prostate cancer. Cancer Res (2010) 1.01
The effect of hyperoxygenation on T1 relaxation time in vitro. Acad Radiol (2003) 0.99
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis (2012) 0.99
Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAHENU2 mice. J Inherit Metab Dis (2012) 0.98
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J Inherit Metab Dis (2011) 0.98
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat (2010) 0.98
The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol. Hum Mol Genet (2012) 0.97
Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase. Metabolism (2006) 0.96
Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease. Mol Ther (2009) 0.96
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis (2006) 0.95
Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav (2008) 0.95
Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Arch Neurol (2012) 0.94
Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep. Sleep (2005) 0.94
Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain. Mol Genet Metab (2006) 0.94
Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol (2010) 0.94
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). Biochim Biophys Acta (2009) 0.94
Spontaneous and precipitated withdrawal after chronic intragastric administration of gamma-hydroxybutyrate (GHB) in baboons. Psychopharmacology (Berl) (2005) 0.93
Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydrogenase (ALDH5A). J Neurochem (2003) 0.93
Usefulness of pulsed arterial spin labeling MR imaging in mesial temporal lobe epilepsy. Epilepsy Res (2008) 0.93
Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition. EMBO Mol Med (2014) 0.93
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet (2005) 0.92
Imaging data in autism: from structure to malfunction. Semin Pediatr Neurol (2004) 0.92
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. Mol Ther (2004) 0.91
Magnetic resonance imaging assessment of a murine model of recessive polycystic kidney disease. Comp Med (2002) 0.91
Temporal lobectomy: resection volume, neuropsychological effects, and seizure outcome. Epilepsy Behav (2009) 0.90
Temporal lobe epilepsy, depression, and hippocampal volume. Epilepsia (2008) 0.90
Gamma-hydroxybutyric acid (GHB) and gamma-aminobutyric acidB receptor (GABABR) binding sites are distinctive from one another: molecular evidence. Neuropharmacology (2004) 0.90
Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol (2003) 0.90
18F-FCWAY and 18F-FDG PET in MRI-negative temporal lobe epilepsy. Epilepsia (2008) 0.89
Magnetic resonance mapping of transplanted endothelial progenitor cells for therapeutic neovascularization in ischemic heart disease. Eur J Cardiothorac Surg (2004) 0.89
Placental stem cell correction of murine intermediate maple syrup urine disease. Hepatology (2013) 0.89
GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology (2012) 0.89
Gonadal mosaicism in severe Pallister-Hall syndrome. Am J Med Genet A (2004) 0.88
Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice. Mol Genet Metab (2013) 0.88
Chronic intragastric administration of gamma-butyrolactone produces physical dependence in baboons. Psychopharmacology (Berl) (2006) 0.88
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. Biochim Biophys Acta (2006) 0.88