• Publications
  • Influence
The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin (Orexin) Receptor 2 Gene
TLDR
It is determined that canine narcolepsy is caused by disruption of the hypocretin (orexin) receptor 2 gene (Hcrtr2) and this result identifies hypocretins as major sleep-modulating neurotransmitters and opens novel potential therapeutic approaches for Narcoleptic patients. Expand
Short Sleep Duration Is Associated with Reduced Leptin, Elevated Ghrelin, and Increased Body Mass Index
TLDR
Differences in leptin and ghrelin are likely to increase appetite, possibly explaining the increased BMI observed with short sleep duration, and changes in appetite regulatory hormones with sleep curtailment may contribute to obesity. Expand
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains
TLDR
In situ hybridization of the perifornical area and peptide radioimmunoassays indicated global loss of hypocretins, without gliosis or signs of inflammation in all human cases examined, indicating most cases of human narcolepsy are associated with a deficient hypocretin system. Expand
Characterization of Sleep in Zebrafish and Insomnia in Hypocretin Receptor Mutants
TLDR
This study validates the use of zebrafish for the study of sleep and indicates molecular diversity in sleep regulatory networks across vertebrates. Expand
Genetic and familial aspects of narcolepsy
  • E. Mignot
  • Psychology, Medicine
  • Neurology
  • 1 February 1998
TLDR
This approach, together with positional cloning studies in humans and canines, should reveal the cause of narcolepsy and open new therapeutic avenues. Expand
A CLOCK polymorphism associated with human diurnal preference.
TLDR
It is suggested that the identified polymorphism or another tightly linked polymorphism within the CLOCK gene or its regulatory elements may be responsible for the finding of a substantial 10- to 44-minute delay in preferred timing for activity or sleep episodes. Expand
Hypocretin (orexin) deficiency in human narcolepsy
Alterations in the hypocretin receptor 2 and preprohypocretin genes produce narcolepsy in animal models. Hypocretin was undetectable in seven out of nine people with narcolepsy, indicating abnormalExpand
The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias.
TLDR
Measuring CSF hypocretin-1 is a definitive diagnostic test, provided that it is interpreted within the clinical context, in cases with cataplexy and when the MSLT is difficult to interpret (ie, in subjects already treated with psychoactive drugs or with other concurrent sleep disorders). Expand
Dopaminergic Role in Stimulant-Induced Wakefulness
TLDR
D dopamine transporters play an important role in sleep regulation and are necessary for the specific wake-promoting action of amphetamines and modafinil. Expand
Sleep spindle detection: crowdsourcing and evaluating performance of experts, non-experts, and automated methods
TLDR
It is shown that crowdsourcing the scoring of sleep data is an efficient method to collect large data sets, even for difficult tasks such as spindle identification, and further refinements to spindle detection algorithms are needed for middle- to older-aged subjects. Expand
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