Search Results - "COOK, Jared F"
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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition
Published in Neurobiology of disease (01-12-2019)“…Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new…”
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Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testing
Published in Movement disorders (01-10-2019)“…Background and Objectives Rapid‐onset dystonia–parkinsonism (RDP) is caused by mutations in the ATP1A3 gene, which codes for the α‐3 subunit of the Na+/K+…”
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ATP1A3 Mutation in Adult Rapid-Onset Ataxia
Published in PloS one (18-03-2016)“…A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in…”
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Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes
Published in Frontiers in neurology (26-01-2023)“…Previous research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an variant,…”
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Psychiatric disorders in rapid-onset dystonia-parkinsonism
Published in Neurology (11-09-2012)“…Rapid-onset dystonia-parkinsonism (RDP) is caused by a variety of missense mutations in the ATP1A3 gene. Psychiatric comorbidity has been reported, although…”
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Clinical, hemispheric, and autonomic changes associated with use of closed-loop, allostatic neurotechnology by a case series of individuals with self-reported symptoms of post-traumatic stress
Published in BMC psychiatry (19-04-2017)“…The objective of this pilot study was to explore the use of a closed-loop, allostatic, acoustic stimulation neurotechnology for individuals with self-reported…”
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Successful use of closed-loop allostatic neurotechnology for post-traumatic stress symptoms in military personnel: self-reported and autonomic improvements
Published in Military medical research (22-12-2017)“…Military-related post-traumatic stress (PTS) is associated with numerous symptom clusters and diminished autonomic cardiovascular regulation. High-resolution,…”
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Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings
Published in Acta neuropathologica (01-07-2014)“…Rapid-onset dystonia-parkinsonism (RDP) is a movement disorder associated with mutations in the ATP1A3 gene. Signs and symptoms of RDP commonly occur in…”
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Cognitive impairment in rapid-onset dystonia-parkinsonism
Published in Movement disorders (01-03-2014)“…ABSTRACT Rapid‐onset dystonia‐parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive…”
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Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients
Published in Journal of clinical neuroscience (01-11-2020)“…•Patients with RDP are more likely to experience dysarthria than familial controls.•Patients with RDP are more likely to experience voice dysfunction than…”
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Use of an allostatic neurotechnology by adolescents with postural orthostatic tachycardia syndrome (POTS) is associated with improvements in heart rate variability and changes in temporal lobe electrical activity
Published in Experimental brain research (01-03-2016)“…Autonomic dysregulation and heterogeneous symptoms characterize postural orthostatic tachycardia syndrome (POTS). This study evaluated the effect of…”
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Reduction in menopause-related symptoms associated with use of a noninvasive neurotechnology for autocalibration of neural oscillations
Published in Menopause (New York, N.Y.) (01-06-2015)“…OBJECTIVEIncreased amplitudes in high-frequency brain electrical activity are reported with menopausal hot flashes. We report outcomes associated with the use…”
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A Preliminary Study of the Effectiveness of an Allostatic, Closed-Loop, Acoustic Stimulation Neurotechnology in the Treatment of Athletes with Persisting Post-concussion Symptoms
Published in Sports medicine - open (01-12-2016)“…Background Effective interventions are needed for individuals with persisting post-concussion symptoms. High-resolution, relational, resonance-based,…”
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Use of an allostatic neurotechnology by adolescents with postural orthostatic tachycardia syndrome
Published in Experimental brain research (01-03-2016)“…Autonomic dysregulation and heterogeneous symptoms characterize postural orthostatic tachycardia syndrome (POTS). This study evaluated the effect of…”
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ATP1A3 Mutation in Adult Rapid-Onset Ataxia: e0151429
Published in PloS one (01-03-2016)“…A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in…”
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