Search Results - "Gertler, Tracy"
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Impaired TrkB Receptor Signaling Underlies Corticostriatal Dysfunction in Huntington’s Disease
Published in Neuron (Cambridge, Mass.) (02-07-2014)“…Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder. The debilitating choreic movements that plague HD patients have been attributed…”
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Dichotomous Anatomical Properties of Adult Striatal Medium Spiny Neurons
Published in The Journal of neuroscience (22-10-2008)“…Principal medium spiny projection neurons (MSNs) of the striatum have long been thought to be homogeneous in their somatodendritic morphology and physiology…”
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Cell type-specific plasticity of striatal projection neurons in parkinsonism and L-DOPA-induced dyskinesia
Published in Nature communications (31-10-2014)“…The striatum is widely viewed as the fulcrum of pathophysiology in Parkinson’s disease (PD) and L-DOPA-induced dyskinesia (LID). In these disease states, the…”
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A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome
Published in Seizure (London, England) (01-02-2020)“…•Pathogenic SCN1A missense variants cluster in specific functional channel domains.•The type of pathogenic SCN1A variant does not impact seizures or…”
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Treatment Responsiveness in KCNT1-Related Epilepsy
Published in Neurotherapeutics (01-07-2019)“…Pathogenic variants in KCNT1 represent an important cause of treatment-resistant epilepsy, for which an effective therapy has been elusive. Reports about the…”
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KNa1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons
Published in Neurobiology of disease (15-06-2022)“…KCNT1 encodes the sodium-activated potassium channel KNa1.1, expressed preferentially in the frontal cortex, hippocampus, cerebellum, and brainstem. Pathogenic…”
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Control of Cognition and Adaptive Behavior by the GLP/G9a Epigenetic Suppressor Complex
Published in Neuron (Cambridge, Mass.) (10-12-2009)“…The genetic basis of cognition and behavioral adaptation to the environment remains poorly understood. Here we demonstrate that the histone methyltransferase…”
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Bringing nutritional ketosis to the table as an option for healing the pediatric brain
Published in Frontiers in nutrition (Lausanne) (12-06-2024)“…Our core premise is that personalized variations of a ketogenic diet are likely to benefit pediatric patients with neuropsychiatric symptoms across multiple…”
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Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Published in American journal of human genetics (07-04-2022)“…TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the…”
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Pearls & Oy-sters: When Genetic Generalized Epilepsy Becomes Progressive
Published in Neurology (02-03-2021)Get full text
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Calcium homeostasis, selective vulnerability and Parkinson's disease
Published in Trends in neurosciences (Regular ed.) (01-05-2009)“…Parkinson's disease (PD) is a common neurodegenerative disorder of which the core motor symptoms are attributable to the degeneration of dopamine (DA) neurons…”
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HCN channelopathy in external globus pallidus neurons in models of Parkinson's disease
Published in Nature neuroscience (01-01-2011)“…Using a rat model of PD, the authors find a progressive decline in autonomous globus pallidus pacemaking. This loss was reversed by viral expression of the HCN…”
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Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell–Derived Neurons
Published in Biological psychiatry (1969) (15-07-2023)“…Schizophrenia (SCZ) is a debilitating psychiatric disorder with a large genetic contribution; however, its neurodevelopmental substrates remain largely…”
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A molecular basis for the increased vulnerability of substantia nigra dopamine neurons in aging and Parkinson's disease
Published in Movement disorders (2010)“…Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. There is no cure or proven strategy for slowing the progression of the…”
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Screening of conventional anticonvulsants in a genetic mouse model of epilepsy
Published in Annals of clinical and translational neurology (01-05-2017)“…Objective Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to…”
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Published in Brain (London, England : 1878) (14-09-2022)“…Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, first identified as the gene…”
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SCN8A: When Neurons Are So Excited, They Just Can’t Hide It
Published in Epilepsy currents (01-07-2019)“…Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia…”
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Hypoglycemia in Infants and Effect on Neurodevelopment
Published in Pediatric neurology briefs (18-12-2020)“…In a prospective, randomized treatment trial, investigators from multiple institutions in the HypoEXIT Study Group investigated the developmental outcomes…”
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The role of dopamine in modulating the structure and function of striatal circuits
Published in Progress in brain research (2010)“…Dopamine (DA) is a key regulator of action selection and associative learning. The striatum has long been thought to be a major locus of DA action in this…”
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