Genetics of circadian rhythms and sleep in human health and disease

JM Lane, J Qian, E Mignot, S Redline… - Nature Reviews …, 2023 - nature.com
Circadian rhythms and sleep are fundamental biological processes integral to human
health. Their disruption is associated with detrimental physiological consequences …

The neurobiological basis of narcolepsy

CE Mahoney, A Cogswell, IJ Koralnik… - Nature Reviews …, 2019 - nature.com
Narcolepsy is the most common neurological cause of chronic sleepiness. The discovery
about 20 years ago that narcolepsy is caused by selective loss of the neurons producing …

T cells in patients with narcolepsy target self-antigens of hypocretin neurons

D Latorre, U Kallweit, E Armentani, M Foglierini, F Mele… - Nature, 2018 - nature.com
Narcolepsy is a chronic sleep disorder caused by the loss of neurons that produce
hypocretin. The close association with HLA-DQB1* 06: 02, evidence for immune …

A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

C Peyron, J Faraco, W Rogers, B Ripley, S Overeem… - Nature medicine, 2000 - nature.com
We explored the role of hypocretins in human narcolepsy through histopathology of six
narcolepsy brains and mutation screening of Hcrt, Hcrtr1 and Hcrtr2 in 74 patients of various …

AS03 adjuvanted AH1N1 vaccine associated with an abrupt increase in the incidence of childhood narcolepsy in Finland

H Nohynek, J Jokinen, M Partinen, O Vaarala… - PloS one, 2012 - journals.plos.org
Background Narcolepsy is a chronic sleep disorder with strong genetic predisposition
causing excessive daytime sleepiness and cataplexy. A sudden increase in childhood …

Physiology of gangliosides and the role of antiganglioside antibodies in human diseases

G Cutillo, AH Saariaho, S Meri - Cellular & molecular immunology, 2020 - nature.com
Gangliosides are structurally and functionally polymorphic sialic acid containing
glycosphingolipids that are widely distributed in the human body. They play important roles …

The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias

E Mignot, GJ Lammers, B Ripley, M Okun… - Archives of …, 2002 - jamanetwork.com
Context Narcolepsy, a neurological disorder affecting 1 in 2000 individuals, is associated
with HLA-DQB1* 0602 and low cerebrospinal fluid (CSF) hypocretin (orexin) levels …

Narcolepsy as an autoimmune disease: the role of H1N1 infection and vaccination

M Partinen, BR Kornum, G Plazzi, P Jennum… - The Lancet …, 2014 - thelancet.com
Narcolepsy is a sleep disorder characterised by loss of hypothalamic hypocretin (orexin)
neurons. The prevalence of narcolepsy is about 30 per 100 000 people, and typical age at …

Clinical considerations for the diagnosis of idiopathic hypersomnia

Y Dauvilliers, RK Bogan, I Arnulf, TE Scammell… - Sleep Medicine …, 2022 - Elsevier
Idiopathic hypersomnia is a sleep disorder of neurologic origin characterized by excessive
daytime sleepiness, with sleep inertia, long, unrefreshing naps, and prolonged nighttime …

Complex HLA-DR and-DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups

E Mignot, L Lin, W Rogers, Y Honda, X Qiu… - The American Journal of …, 2001 - cell.com
Human narcolepsy-cataplexy, a sleep disorder associated with a centrally mediated
hypocretin (orexin) deficiency, is tightly associated with HLA-DQB1* 0602. Few studies have …