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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and… Expand
Restless legs syndrome enhances cardiovascular risk and mortality in patients with end-stage kidney disease undergoing long-term haemodialysis treatment.
- G. La Manna, F. Pizza, +9 authors S. Stefoni
- Nephrology, dialysis, transplantation : official…
- 1 June 2011
BACKGROUND Restless legs syndrome (RLS) is a sensorimotor neurological disorder characterized by paraesthesia, dysaesthesia and the irresistible urge to move the legs especially at night. Its… Expand
Diffusion‐weighted imaging study of patients with essential tremor
- P. Martinelli, G. Rizzo, +6 authors R. Lodi
- Medicine, Psychology
- Movement disorders : official journal of the…
- 15 June 2007
The pathophysiology of essential tremor (ET) is unknown. PET and fMRI studies have revealed bilateral activation and 1H‐MRS studies metabolic abnormalities in the cerebellum and other functionally… Expand
Common variants in P2RY11 are associated with narcolepsy
Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for narcolepsy with replication and fine mapping… Expand
Complex movement disorders at disease onset in childhood narcolepsy with cataplexy
Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed… Expand
Neural network analysis of sleep stages enables efficient diagnosis of narcolepsy
- Jens B. Stephansen, Alexander N. Olesen, +27 authors E. Mignot
- Medicine, Computer Science
- Nature Communications
- 5 October 2017
Analysis of sleep for the diagnosis of sleep disorders such as Type-1 Narcolepsy (T1N) currently requires visual inspection of polysomnography records by trained scoring technicians. Here, we used… Expand
Sleep quality and motor vehicle crashes in adolescents.
- F. Pizza, S. Contardi, +5 authors F. Cirignotta
- Journal of clinical sleep medicine : JCSM…
- 15 February 2010
STUDY OBJECTIVES Sleep-related complaints are common in adolescents, but their impact on the rate of motor vehicle crashes accidents is poorly known. We studied subjective sleep quality, driving… Expand
Clinical, polysomnographic and genome‐wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study
- Gianina Luca, J. Haba-Rubio, +27 authors M. Tafti
- Medicine, Psychology
- Journal of sleep research
- 1 October 2013
The aim of this study was to describe the clinical and PSG characteristics of narcolepsy with cataplexy and their genetic predisposition by using the retrospective patient database of the European… Expand
Body mass index-independent metabolic alterations in narcolepsy with cataplexy.
STUDY OBJECTIVES To contribute to the anthropometric and metabolic phenotyping of orexin-A-deficient narcoleptic patients, and to explore a possible risk of their developing a metabolic syndrome. … Expand
HLA-DPB1 and HLA class I confer risk of and protection from narcolepsy.
- H. Ollila, Jean-Marie Ravel, +31 authors E. Mignot
- Medicine, Biology
- American journal of human genetics
- 8 January 2015
Type 1 narcolepsy, a disorder caused by a lack of hypocretin (orexin), is so strongly associated with human leukocyte antigen (HLA) class II HLA-DQA1(∗)01:02-DQB1(∗)06:02 (DQ0602) that very few… Expand