PMC Articles for MedGen (Select 332320) - PMC

Eric Yu, Lynne Krohn, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Zalak Shah, Ruth Chia, Isabelle Arnulf, Michele T. M. Hu, Jacques Y. Montplaisir, Jean‐François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Abubaker Ibrahim, Anna Heidbreder, Karel Sonka, Petr Dusek, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel‐Döring, Valérie Cochen De Cock, Luigi Ferini‐Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, Guy A. Rouleau, Ronald B. Postuma, The International LBD Genomics Consortium, Sonja W. Scholz, Ziv Gan‐Or

Ann Clin Transl Neurol. 2023 Sep; 10(9): 1682–1687. Published online 2023 Jul 4. doi: 10.1002/acn3.51841

PMCID:: PMC10502660

Abstract Article PDF–501K

Select item 103078344.

Narcolepsy type I-associated DNA methylation and gene expression changes in the human leukocyte antigen region

Kugui Yoshida-Tanaka, Mihoko Shimada, Yoshiko Honda, Akihiro Fujimoto, Katsushi Tokunaga, Makoto Honda, Taku Miyagawa

Sci Rep. 2023; 13: 10464. Published online 2023 Jun 28. doi: 10.1038/s41598-023-37511-4

PMCID:: PMC10307834

Abstract Article PDF–1.5M

Select item 101511805.

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease

Konstantin Senkevich, Cornelia E Zorca, Aliza Dworkind, Uladzislau Rudakou, Emma Somerville, Eric Yu, Alexey Ermolaev, Daria Nikanorova, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Francis P Grenn, Ming Sum Ruby Chiang, S Pablo Sardi, Benoît Vanderperre, Cornelis Blauwendraat, Jean-François Trempe, Edward A Fon, Thomas M Durcan, Roy N Alcalay, Ziv Gan-Or

Brain. 2023 May; 146(5): 1859–1872. Published online 2022 Nov 11. doi: 10.1093/brain/awac413

PMCID:: PMC10151180

Abstract Article PDF–770K

Select item 100466646.

LC-MS/MS-Based Proteomics Approach for the Identification of Candidate Serum Biomarkers in Patients with Narcolepsy Type 1

Akeem Sanni, Mona Goli, Jingfu Zhao, Junyao Wang, Chloe Barsa, Samer El Hayek, Farid Talih, Bartolo Lanuzza, Firas Kobeissy, Giuseppe Plazzi, Monica Moresco, Stefania Mondello, Raffaele Ferri, Yehia Mechref

Biomolecules. 2023 Mar; 13(3): 420. Published online 2023 Feb 23. doi: 10.3390/biom13030420

PMCID:: PMC10046664

Abstract Article PDF–2.0M

Select item 100180817.

Role of pontine sub‐laterodorsal tegmental nucleus (SLD) in rapid eye movement (REM) sleep, cataplexy, and emotion

Fang‐Fang Fan, Ramalingam Vetrivelan, Yi Yang, Zhen‐Ni Guo, Jun Lu

CNS Neurosci Ther. 2023 Apr; 29(4): 1192–1196. Published online 2022 Dec 30. doi: 10.1111/cns.14074

PMCID:: PMC10018081

Abstract Article PDF–1.0M

Select item 96734368.

Whole-genome analysis of monozygotic Brazilian twins discordant for type 1 narcolepsy: a case report

João H. C. Campos, Ana C. R. Aguilar, Fernando Antoneli, Giselle Truzzi, Marcelo R. S. Briones, Renata C. Ferreira, Fernando M. S. Coelho

BMC Neurol. 2022; 22: 439. Published online 2022 Nov 18. doi: 10.1186/s12883-022-02921-w

PMCID:: PMC9673436

Abstract Article PDF–1.5M

Select item 94363349.

Orexin 2 receptor–selective agonist danavorexton improves narcolepsy phenotype in a mouse model and in human patients

Rebecca Evans, Haruhide Kimura, Robert Alexander, Ceri H. Davies, Hélène Faessel, Deborah S. Hartman, Takashi Ishikawa, Emiliangelo Ratti, Kohei Shimizu, Motohisa Suzuki, Shinichiro Tanaka, Hiroshi Yukitake, Yves Dauvilliers, Emmanuel Mignot

Proc Natl Acad Sci U S A. 2022 Aug 30; 119(35): e2207531119. Published online 2022 Aug 22. doi: 10.1073/pnas.2207531119

PMCID:: PMC9436334

Abstract Article PDF–962K

Select item 910732710.

Hyperexcitable arousal circuits drive sleep instability during aging

Shi-Bin Li, Valentina Martinez Damonte, Chong Chen, Gordon X. Wang, Justus M. Kebschull, Hiroshi Yamaguchi, Wen-Jie Bian, Carolin Purmann, Reenal Pattni, Alexander Eckehart Urban, Philippe Mourrain, Julie A. Kauer, Grégory Scherrer, Luis de Lecea

Science. Author manuscript; available in PMC 2022 May 14.

Published in final edited form as: Science. 2022 Feb 25; 375(6583): eabh3021. Published online 2022 Feb 25. doi: 10.1126/science.abh3021

PMCID:: PMC9107327

Abstract Article PDF–3.0M

Select item 878864311.

Treatment with immunosuppressive and anti-inflammatory agents delays onset of canine genetic narcolepsy and reduces symptom severity

L.N. Boehmer, M.-F. Wu, J. John, J.M. Siegel

Exp Neurol. Author manuscript; available in PMC 2022 Jan 25.

Published in final edited form as: Exp Neurol. 2004 Aug; 188(2): 292–299. doi: 10.1016/j.expneurol.2004.04.006

PMCID:: PMC8788643

Abstract Article PDF–806K

Select item 836134512.

High nocturnal sleep fragmentation is associated with low T lymphocyte P2Y₁₁ protein levels in narcolepsy type 1

Rannveig Viste, Marte K Viken, Benedicte A Lie, Hilde T Juvodden, Sebjørg E H Nordstrand, Per M Thorsby, Terje Rootwelt, Birgitte R Kornum, Stine Knudsen-Heier

Sleep. 2021 Aug; 44(8): zsab062. Published online 2021 Mar 12. doi: 10.1093/sleep/zsab062

PMCID:: PMC8361345

Abstract Article PDF–4.2M

Select item 821142913.

Greatly Increased Numbers of Histamine Cells in Human Narcolepsy with Cataplexy

Joshi John, Thomas C. Thannickal, Ronald McGregor, Lalini Ramanathan, Hiroshi Ohtsu, Seiji Nishino, Noriaki Sakai, Akhiro Yamanaka, Carly Stone, Marcia Cornford, Jerome M. Siegel

Ann Neurol. Author manuscript; available in PMC 2021 Jun 17.

Published in final edited form as: Ann Neurol. 2013 Dec; 74(6): 786–793. Published online 2013 Sep 10. doi: 10.1002/ana.23968

PMCID:: PMC8211429

Abstract Article PDF–710K

Select item 805532014.

Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder

Kheireddin Mufti, Eric Yu, Uladzislau Rudakou, Lynne Krohn, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Isabelle Arnulf, Michele T.M. Hu, Jacques Y. Montplaisir, Jean-François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Evi Holzknecht, Karel Sonka, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Döring, Valérie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, Jean-François Trempe, Guy A. Rouleau, Ronald B. Postuma, Ziv Gan-Or

Neurology. 2021 Mar 9; 96(10): e1402–e1412. doi: 10.1212/WNL.0000000000011464

PMCID:: PMC8055320

Abstract Article PDF–326K

Select item 802504615.

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

Lynne Krohn, Richard YJ Wu, Karl Heilbron, Jennifer A. Ruskey, Sandra B. Laurent, Cornelis Blauwendraat, Armaghan Alam, Isabelle Arnulf, Michele T.M. Hu, Yves Dauvilliers, Birgit Högl, Mathias Toft, Kari Anne Bjørnarå, Ambra Stefani, Evi Holzknecht, Christelle Charley Monaca, Abril Beatriz, Giuseppe Plazzi, Elena Antelmi, Luigi Ferini-Strambi, Peter Young, Anna Heidbreder, Valérie Cochen De Cock, Brit Mollenhauer, Friederike Sixel-Döring, Claudia Trenkwalder, Karel Sonka, David Kemlink, Michela Figorilli, Monica Puligheddu, Femke Dijkstra, Mineke Viaene, Wolfang Oertel, Marco Toffoli, Gian Luigi Gigli, Mariarosaria Valente, Jean-François Gagnon, Mike A. Nalls, Andrew B. Singleton, 23andMe Research Team, Alex Desautels, Jacques Y. Montplaisir, Paul Cannon, Owen A. Ross, Bradley F. Boeve, Nicolas Dupré, Edward A. Fon, Ronald B. Postuma, Lasse Pihlstrøm, Guy A. Rouleau, Ziv Gan-Or

Ann Neurol. Author manuscript; available in PMC 2021 Apr 7.

Published in final edited form as: Ann Neurol. 2020 Apr; 87(4): 584–598. Published online 2020 Feb 12. doi: 10.1002/ana.25687

PMCID:: PMC8025046

Abstract Article PDF–1.0M

Select item 799987616.

Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Aditya Ambati, Ryan Hillary, Smaranda Leu-Semenescu, Hanna M. Ollila, Ling Lin, Emmanuel H. During, Neal Farber, Thomas J. Rico, Juliette Faraco, Eileen Leary, Andrea N. Goldstein-Piekarski, Yu-Shu Huang, Fang Han, Yakov Sivan, Michel Lecendreux, Pauline Dodet, Makoto Honda, Natan Gadoth, Sona Nevsimalova, Fabio Pizza, Takashi Kanbayashi, Rosa Peraita-Adrados, Guy D. Leschziner, Rosa Hasan, Francesca Canellas, Kazuhiko Kume, Makrina Daniilidou, Patrice Bourgin, David Rye, José L. Vicario, Birgit Hogl, Seung Chul Hong, Guiseppe Plazzi, Geert Mayer, Anne Marie Landtblom, Yves Dauvilliers, Isabelle Arnulf, Emmanuel Jean-Marie Mignot

Proc Natl Acad Sci U S A. 2021 Mar 23; 118(12): e2005753118. Published online 2021 Mar 18. doi: 10.1073/pnas.2005753118

PMCID:: PMC7999876

Abstract Article PDF–1.1M

Select item 794081317.

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s disease

Prabhjyot Saini, Uladzislau Rudakou, Eric Yu, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Alberto J. Espay, Guy A. Rouleau, Roy N. Alcalay, Edward A. Fon, Ronald B. Postuma, Ziv Gan-Or

Neurobiol Aging. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Neurobiol Aging. 2021 Apr; 100: 119.e7–119.e13. Published online 2020 Oct 31. doi: 10.1016/j.neurobiolaging.2020.10.019

PMCID:: PMC7940813

Abstract Article PDF–124K

Select item 794016818.

Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations

Uladzislau Rudakou, Eric Yu, Lynne Krohn, Jennifer A Ruskey, Farnaz Asayesh, Yves Dauvilliers, Dan Spiegelman, Lior Greenbaum, Stanley Fahn, Cheryl H Waters, Nicolas Dupré, Guy A Rouleau, Sharon Hassin-Baer, Edward A Fon, Roy N Alcalay, Ziv Gan-Or

Brain. 2021 Feb; 144(2): 462–472. Published online 2020 Dec 22. doi: 10.1093/brain/awaa401

PMCID:: PMC7940168

Abstract Article PDF–681K

Select item 789601419.

A Discrete Glycinergic Neuronal Population in the Ventromedial Medulla That Induces Muscle Atonia during REM Sleep and Cataplexy in Mice

Shuntaro Uchida, Shingo Soya, Yuki C. Saito, Arisa Hirano, Keisuke Koga, Makoto Tsuda, Manabu Abe, Kenji Sakimura, Takeshi Sakurai

J Neurosci. 2021 Feb 17; 41(7): 1582–1596. doi: 10.1523/JNEUROSCI.0688-20.2020

PMCID:: PMC7896014

Abstract Article PDF–7.1M

Select item 786492420.

Structures of active-state orexin receptor 2 rationalize peptide and small-molecule agonist recognition and receptor activation

Chuan Hong, Noel J. Byrne, Beata Zamlynny, Srivanya Tummala, Li Xiao, Jennifer M. Shipman, Andrea T. Partridge, Christina Minnick, Michael J. Breslin, Michael T. Rudd, Shawn J. Stachel, Vanessa L. Rada, Jeffrey C. Kern, Kira A. Armacost, Scott A. Hollingsworth, Julie A. O’Brien, Dawn L. Hall, Terrence P. McDonald, Corey Strickland, Alexei Brooun, Stephen M. Soisson, Kaspar Hollenstein

Nat Commun. 2021; 12: 815. Published online 2021 Feb 5. doi: 10.1038/s41467-021-21087-6

PMCID:: PMC7864924

Abstract Article PDF–2.1M

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