Results 41 to 50 of about 3,481 (110)

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

European Journal of Neurology, Volume 33, Issue 9, September 2026.
Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann, Göknur Haliloğlu, Maria Antonia Grimalt, Damjan Osredkar, Ana Vesperinas Castro, Silvia Cerezo Corredera, Angela Abicht, Adalet Elçin Yıldız, Johann Böhm, Ulrike Schara‐Schmidt, Anja Troha Gergeli, Berta Estevez‐Arias, Elena Cortes Vicente, Andres Nascimento, Adela Della Marina, Daniel Natera‐de Benito, Andreas Roos   +16 more
wiley   +1 more source

Re: “Palliative Care in Europe: Safeguarding Compassion Amidst Changing End‐of‐Life Policies and Expanding Access to Medically Assisted Dying Position Statement on Behalf of the European Academy of Neurology, the European Federation of Neurological Associations and OneNeurology”

European Journal of Neurology, Volume 33, Issue 10, October 2026.
Katarina Rukavina, Marianne de Visser, Elena Moro, Kailash Bhatia, Paul Boon, Jana Midelfart‐Hoff, Matilde Leonardi, Irena Rektorova, Gereon R. Fink, Nathalie Nasr, Alicia Gonzalez‐Martinez, Claudio L. A. Bassetti, Ulf Kallweit, Michael Crean, Patrick Cras, Ludo Vanopdenbosch, Astri Arnesen, Joke Jaarsma, Alexander Bernhard Kowski, Simone Veronese, David Oliver, on behalf of the European Academy of Neurology, the European Federation of Neurological Associations, OneNeurology   +23 more
wiley   +1 more source

Absence of γ‐aminobutyric acid‐a receptor potentiation in central hypersomnolence disorders

Annals of Neurology, 2016
ObjectiveThe pathophysiology of idiopathic hypersomnia (IH) remains unclear. Recently, cerebrospinal fluid (CSF)‐induced enhancement of γ‐aminobutyric acid (GABA)‐A receptor activity was found in patients with IH compared to controls.MethodsFifteen unrelated patients (2 males and 13 females) affected with typical IH, 12 patients (9 males and 3 females)
Dauvilliers, Yves, Evangelista, Elisa, Lopez, Regis, Barateau, Lucie, Jaussent, Isabelle, Cens, Thierry, Rousset, Matthieu, Charnet, Pierre   +7 more
openaire   +3 more sources

Guardians of Rest? Investigating the gut microbiota in central hypersomnolence disorders

Sleep Medicine
In recent years, there has been an increased interest in elucidating the influence of the gut microbiota on sleep physiology. The gut microbiota affects the central nervous system by modulating neuronal pathways through the neuroendocrine and immune system, the hypothalamus-pituitary-adrenal axis, and various metabolic pathways.
Janet Jezkova, Karel Sonka, Jakub Kreisinger, Petra Prochazkova, Helena Tlaskalova-Hogenova, Sona Nevsimalova, Jitka Buskova, Radana Merkova, Tereza Dvorakova, Iva Prihodova, Simona Dostalova, Radka Roubalova   +11 more
openaire   +3 more sources

Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women. [PDF]

Brain Sci, 2022
Nevsimalova S, Skibova J, Galuskova K, Prihodova I, Dostalova S, Maurovich-Horvat E, Šonka K.   +6 more
europepmc   +1 more source

Central disorders of hypersomnolence: diagnostic discrepancies between military and civilian sleep centers. [PDF]

J Clin Sleep Med, 2022
Thomas CL, Vattikuti S, Shaha D, Werner JK, Hansen S, Collen J, Capaldi VF, Williams S.   +7 more
europepmc   +1 more source

The Psychomotor Vigilance Test as a measure of alertness and sleep inertia in people with central disorders of hypersomnolence. [PDF]

J Clin Sleep Med, 2022
Trotti LM, Saini P, Bremer E, Mariano C, Moron D, Rye DB, Bliwise DL.   +6 more
europepmc   +1 more source

Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine clinical practice guideline. [PDF]

J Clin Sleep Med, 2021
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF.   +6 more
europepmc   +1 more source

Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine systematic review, meta-analysis, and GRADE assessment. [PDF]

J Clin Sleep Med, 2021
Maski K, Trotti LM, Kotagal S, Robert Auger R, Swick TJ, Rowley JA, Hashmi SD, Watson NF.   +7 more
europepmc   +1 more source

Quality of life in Australian patients with central disorders of hypersomnolence. [PDF]

Sleep Adv
Kinder S, Winter S, Duce B, Ellender CM.
europepmc   +1 more source