Genetics of restless legs syndrome (RLS): State‐of‐the‐art and future directions

…, O Polo, F Provini, S Nevsimalova… - … : Official Journal of …, 2007 - Wiley Online Library
… been suggested that RLS is a highly … is hampered by possible intrafamilial, allelic, and
nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is

Decreased CSF histamine in narcolepsy with and without low CSF hypocretin-1 in comparison to healthy controls

S Nishino, E Sakurai, S Nevsimalova, Y Yoshida… - Sleep, 2009 - academic.oup.com
… Whether or not the level increase is of central origin is unknown, as histamine is highly
concentrated in mast cells and blood.In rats, we recently found that CSF histamine contents were …

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

…, B Ripley, S Overeem, Y Charnay, S Nevsimalova… - Nature medicine, 2000 - nature.com
… Wild-type protein fused to GFP is processed into mature secretory vesicles and is not …
Mutant protein fused to GFP is retained in a tubular network overlapping with syntaxin-17, and is

Narcolepsy in childhood

S Nevsimalova - Sleep medicine reviews, 2009 - Elsevier
… Narcolepsy is a chronic disease commonly diagnosed in middle adulthood. However, the …
The aim of the review is to stress some specific features of the clinical picture in children, to …

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

…, M Okun, S Nevsimalova, S Overeem… - Archives of …, 2002 - jamanetwork.com
is a genuine disease entity. Measuring CSF hypocretin-1 is a definitive diagnostic test,
provided that it is … It may be most useful in cases with cataplexy and when the MSLT is difficult to …

HLA DQB1* 06: 02 negative narcolepsy with hypocretin/orexin deficiency

…, HM Ollila, S Nevsimalova, P Jennum, S Knudsen… - Sleep, 2014 - academic.oup.com
… cases with hypocretin deficiency is approximate, as this … is in doubt, either because the
clinical picture is not completely clear or because the clinical picture is clear but the subject is

Narcolepsy is strongly associated with the T-cell receptor alpha locus

…, M Kawashima, G Mayer, G Plazzi, S Nevsimalova… - Nature …, 2009 - nature.com
Narcolepsy with cataplexy, characterized by sleepiness and rapid onset into REM sleep, affects
1 in 2,000 individuals 1 , 2 . Narcolepsy was first shown to be tightly associated with HLA-…

Low cerebrospinal fluid hypocretin (Orexin) and altered energy homeostasis in human narcolepsy

…, B Ripley, S Overeem, S Nevsimalova… - Annals of Neurology …, 2001 - Wiley Online Library
… In humans, narcolepsy is rarely due to hypocretin mutations, but this system is deficient in …
We conclude that the hypocretin ligand is deficient in most cases of human narcolepsy, …

CSF hypocretin/orexin levels in narcolepsy and other neurological conditions

B Ripley, S Overeem, N Fujiki, S Nevsimalova… - Neurology, 2001 - AAN Enterprises
Objective: To examine the specificity of low CSF hypocretin-1 levels in narcolepsy and
explore the potential role of hypocretins in other neurologic disorders. Methods: A method to …

Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset

A Aran, L Lin, S Nevsimalova, G Plazzi, SC Hong… - Sleep, 2009 - academic.oup.com
Study Objectives: Narcolepsy-cataplexy has long been thought to have an autoimmune
origin. Although susceptibility to narcolepsy, like many autoimmune conditions, is largely …