A5102834256- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- CRISPR and Genetic Engineering
- Ion channel regulation and function
- Epilepsy research and treatment
- Bipolar Disorder and Treatment
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Medical Imaging and Pathology Studies
- Parathyroid Disorders and Treatments
- Lipid Membrane Structure and Behavior
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- Chemical Reaction Mechanisms
- Molecular Sensors and Ion Detection
- EEG and Brain-Computer Interfaces
- Attention Deficit Hyperactivity Disorder
- Child Nutrition and Feeding Issues
- Cellular transport and secretion
- Health, Environment, Cognitive Aging
- Functional Brain Connectivity Studies
- Tryptophan and brain disorders
- Long-Term Effects of COVID-19
NeuroDevelopment Center
2019-2020
National Hospital for Neurology and Neurosurgery
2020
University College London
2020
Mitochondria Research and Medicine Society
2020
Courtagen Life Sciences (United States)
2016
Children's Hospital of Los Angeles
2009
University of Arizona
1982-1984
The binding of the novel ligand [3H]Ro 5-4864 to membrane preparations rat kidney and brain was studied. binds with high affinity (Kd = 0.6 nM) a single saturable population benzodiazepine recognition sites on renal membranes. Binding is rapidly reversible and, based its pharmacological spectrum, takes place at peripheral-type, Ro 5-4864-sensitive receptor. Specific high-affinity 1.1 [3H] peripheral-type site can also be demonstrated using lacks stereospecificity regard chiral activity in...
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% individuals affected PFBC no molecular diagnosis. We report four unrelated families presenting initial learning difficulties seizures later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs,...
Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino neurotransmitters in brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA CNS, encoded GAD1 gene. Disruption results imbalance excitatory neurotransmitters, as Gad1-/- mice die neonatally severe cleft palate, it has not been possible determine any potential neurological dysfunction. Furthermore, little known...
Autism spectrum disorder (ASD) is a common condition with lifelong implications. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics databases. We analyzed the raw files on Variantyx® platform for 50 ASD patients evaluated trio whole-genome (trio-WGS). “Qualified” variants were defined as coding, rare, evolutionarily conserved. Primary Diagnostic Variants (PDV), additionally, present genes directly linked to matched clinical correlation. A PDV was...
Binding of the dihydropyridine calcium channel antagonist [3H]nitrendipine to an intact rat brain mitochondrial-synaptosomal fraction (P2) was specific, saturable, temperature-dependent and high affinity (Kd = 115-467 pM). The effects antagonists verapamil diltiazem on binding their temperature dependence were investigated. At 0 25 degrees C, inhibited incompletely in a manner consistent with allosteric modulation nearly independent incubation temperature. diltiazem, however, found be highly...
Major depressive disorder (MDD) is believed to have a genetic factor in its pathogenesis. On the basis of studies MDD showing brain energy depletion and maternal inheritance some families, we hypothesize that likely maternally inherited on mitochondrial DNA (mtDNA). Six hundred seventy-two pedigrees from Genetics Recurrent Early-Onset Depression project were analyzed for matrilineal/nonmatrilineal pairs. Pairs constructed control sex, age autosomal gene contribution (e.g. vs. paternal...
Autism spectrum disorder (ASD) is a heterogeneous condition with complex genetic etiology. The objective of this study to identify the factors that underlie ASD phenotype and other clinical features Professor Temple Grandin, an animal scientist woman high-functioning ASD. Identifying underlying cause for can impact medical management, personalize services treatment, uncover risks are associated diagnosis. Prof. Grandin underwent chromosomal microarray analysis, whole exome sequencing, genome...
Autism spectrum disorder (ASD) is a common condition with lifelong implications and strong hereditary component suggesting genetic underpinnings. The last decade has seen dramatic improvements in DNA sequencing, bioinformatics, databases. 
 We analyzed the raw sequencing files on Variantyx® (Framingham, MA, USA) bioinformatics platform for 50 autism patients evaluated trio whole genome (trio-WGS). “Qualified” variants were defined as coding, very rare, evolutionarily conserved. Primary...
Autism spectrum disorder (ASD) is a common condition with lifelong implications and strong hereditary component suggesting genetic underpinnings. The last decade has seen dramatic improvements in DNA sequencing related bioinformatics databases. 
 We analyzed the raw files on Variantyx® platform for 50 ASD patients evaluated trio whole genome (trio-WGS). “Qualified” variants were defined as coding, rare, evolutionarily conserved. Primary Diagnostic Variants (PDV) additionally genes...
Autism spectrum disorder (ASD) is a common condition with lifelong implications. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics databases. We analyzed the raw files on Variantyx® platform for 50 ASD patients evaluated trio whole genome (trio-WGS). “Qualified” variants were defined as coding, rare, evolutionarily conserved. Primary Diagnostic Variants (PDV) additionally genes directly linked to matched clinical correlation. A PDV was identified...
There are approximately 300,000 pediatric epilepsy cases in the US, with 45,000 newly diagnosed each year. Clinical guidelines and expert consensus agree on importance of a confirmed diagnosis including defining underlying genetic etiology. We investigated reported diagnostic yield clinical utility multigene sequencing panels identifying, confirming or ruling out causes syndromes, inherited conditions symptomatic seizures, genes implicated antiepileptic drug metabolism. conducted targeted...
<h3>Objective:</h3> To determine the current sensitivity of trio whole genome sequencing (trio-WGS) in autism. <h3>Background:</h3> The last decade has seen dramatic improvements proportion clinically sequenced (e.g., < 1% to > 99%), accuracy, bioinformatic tools, and variant databases. Rapidly shifting methodologies have complicated measurements. Additionally, literature is almost entirely from academic research centers, independent organizations unclear. <h3>Design/Methods:</h3>...
May 5, 2019April 9, 2019Free Access “Peer-to-Peer”: A program to Connect a Clinical Genomicist and the Treating Neurologist Correlate Genotype with Phenotype (P1.6-047)Mark Mintz, Daphna Varadi, Pnina Richard G. BolesAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.P1.6-047 Letters Editor