Search Results - "LEE, Paul R"
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Protease-activated receptor-1 activation by granzyme B causes neurotoxicity that is augmented by interleukin-1β
Published in Journal of neuroinflammation (27-06-2017)“…The cause of neurodegeneration in progressive forms of multiple sclerosis is unknown. We investigated the impact of specific neuroinflammatory markers on human…”
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2
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype
Published in American journal of medical genetics. Part A (01-12-2018)“…We describe two unrelated children with de novo variants in the non‐erythrocytic alpha‐II‐spectrin (SPTAN1) gene who have hypoplastic brain structures,…”
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3
Social Interaction Deficits Caused by Chronic Phencyclidine Administration are Reversed by Oxytocin
Published in Neuropsychopharmacology (New York, N.Y.) (01-10-2005)“…Chronic administration of phencyclidine (PCP) has been advanced as a valid animal model of the social deficit symptoms of schizophrenia. In these studies, the…”
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4
Prenatal exposure to a repeated variable stress paradigm elicits behavioral and neuroendocrinological changes in the adult offspring: potential relevance to schizophrenia
Published in Behavioural brain research (30-01-2005)“…Exposure to stress during gestation induces marked changes in the behavior of the affected offspring. Examining the consequences of prenatal stress may prove…”
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Nodding syndrome may be an autoimmune reaction to the parasitic worm Onchocerca volvulus
Published in Science translational medicine (15-02-2017)“…Nodding syndrome is an epileptic disorder of unknown etiology that occurs in children in East Africa. There is an epidemiological association with , the…”
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Child Neurology: Zellweger syndrome
Published in Neurology (14-05-2013)“…Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal…”
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7
Expanding spectrum of opportunistic infections associated with dimethyl fumarate
Published in Multiple sclerosis (01-07-2021)“…Background: Only progressive multifocal leukoencephalopathy (PML) is currently described in the dimethyl fumarate (DMF) prescribing information. Objectives: To…”
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8
Immune-mediated colitis associated with ocrelizumab: A new safety risk
Published in Multiple sclerosis (01-09-2023)“…Background: An association between certain immunomodulatory therapies (rituximab, ipilimumab, and other immune checkpoint inhibitors) and inflammatory…”
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Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Published in Neurology (28-07-2015)“…Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (MCADD) is an autosomal recessive inherited fatty acid oxidation disorder. In MCADD, mitochondria…”
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10
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program
Published in Molecular genetics and metabolism (01-11-2023)“…The NIH Undiagnosed Diseases Program (UDP) aims to provide diagnoses to patients who have previously received exhaustive evaluations yet remain undiagnosed…”
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11
Dietary treatments for epilepsy: Management guidelines for the general practitioner
Published in Epilepsy & behavior (01-06-2011)“…Abstract As ketogenic diets become more frequently used as a standard treatment for epilepsy in children and adults, hospital and community neurologists,…”
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Prenatal stress generates deficits in rat social behavior: Reversal by oxytocin
Published in Brain research (02-07-2007)“…Abstract Neurodevelopmental changes induced by environmental stress exposure play a significant but poorly defined role in the etiology of schizophrenia…”
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13
Progressive multifocal leukoencephalopathy associated with sphingosine-1-phosphate receptor modulators: A large case series
Published in Multiple sclerosis and related disorders (01-12-2024)“…•Additional factors may influence the risk of PML associated with MS therapies and can be used to stratify and mitigate the risk of PML.•In this large case…”
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14
Centrally administered oxytocin elicits exaggerated grooming in oxytocin null mice
Published in Pharmacology, biochemistry and behavior (01-06-2004)“…Experiments were conducted to determine if the chronic absence of the neurotransmitter oxytocin (OT) in null mice resulted in alterations in the responsiveness…”
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Published in Human genetics (01-12-2021)“…Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense…”
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Opinion & Special Articles: Mentoring in neurology: Filling the residency gap in academic mentoring
Published in Neurology (11-03-2014)“…Effective academic mentoring significantly affects a physicianʼs choice of career, academic productivity, and professional trajectory. The mentoring…”
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Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
Published in Brain (London, England : 1878) (01-09-2016)Get full text
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MED23-associated intellectual disability in a non-consanguineous family
Published in American journal of medical genetics. Part A (01-06-2015)“…Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in…”
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Detection of auto-antibodies to leiomodin-1 in patients with nodding syndrome
Published in Journal of neuroimmunology (15-10-2014)Get full text
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20
The Living Matrix: a Model for the Primary Respiratory Mechanism
Published in Explore (New York, N.Y.) (01-11-2008)“…Presented here is a physiological model for the primary respiratory mechanism, palpable fluctuations in the tissues to which practitioners of cranial…”
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