PMC Articles for MedGen (Select 5699) - PMC

Christopher J. Klein, Tom Bird, Nilufer Ertekin-Taner, Sarah Lincoln, Robert Hjorth, Yanhong Wu, John Kwok, Georges Mer, Peter J. Dyck, Garth A. Nicholson

Neurology. 2013 Feb 26; 80(9): 824–828. doi: 10.1212/WNL.0b013e318284076d

PMCID:: PMC3598458

Abstract Article PDF–347K

Select item 35786836.

Narcolepsy-Cataplexy: Is Streptococcal Infection a Trigger?

Niranjana Natarajan, Sejal V. Jain, Hina Chaudhry, Barbara E. Hallinan, Narong Simakajornboon

J Clin Sleep Med. 2013 Mar 15; 9(3): 269–270. Published online 2013 Mar 15. doi: 10.5664/jcsm.2498

PMCID:: PMC3578683

Abstract Article PDF–217K

Select item 35731137.

ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy

Juliette Faraco, Ling Lin, Birgitte Rahbek Kornum, Eimear E. Kenny, Gosia Trynka, Mali Einen, Tom J. Rico, Peter Lichtner, Yves Dauvilliers, Isabelle Arnulf, Michel Lecendreux, Sirous Javidi, Peter Geisler, Geert Mayer, Fabio Pizza, Francesca Poli, Giuseppe Plazzi, Sebastiaan Overeem, Gert Jan Lammers, David Kemlink, Karel Sonka, Sona Nevsimalova, Guy Rouleau, Alex Desautels, Jacques Montplaisir, Birgit Frauscher, Laura Ehrmann, Birgit Högl, Poul Jennum, Patrice Bourgin, Rosa Peraita-Adrados, Alex Iranzo, Claudio Bassetti, Wei-Min Chen, Patrick Concannon, Susan D. Thompson, Vincent Damotte, Bertrand Fontaine, Maxime Breban, Christian Gieger, Norman Klopp, Panos Deloukas, Cisca Wijmenga, Joachim Hallmayer, Suna Onengut-Gumuscu, Stephen S. Rich, Juliane Winkelmann, Emmanuel Mignot

PLoS Genet. 2013 Feb; 9(2): e1003270. Published online 2013 Feb 14. doi: 10.1371/journal.pgen.1003270

PMCID:: PMC3573113

Abstract Article PDF–752K

Select item 35259928.

Sodium Oxybate Intolerance Associated with Familial Serum Acylcarnitine Elevation

Jon Berner

J Clin Sleep Med. 2013 Jan 15; 9(1): 71–72. Published online 2013 Jan 15. doi: 10.5664/jcsm.2346

PMCID:: PMC3525992

Abstract Article PDF–530K

Select item 35024249.

Monozygotic twins concordant for Kleine-Levin syndrome

Taro Ueno, Akira Fukuhara, Azusa Ikegami, Fumihiro Ohishi, Kazuhiko Kume

BMC Neurol. 2012; 12: 31. Published online 2012 May 30. doi: 10.1186/1471-2377-12-31

PMCID:: PMC3502424

Abstract Article PDF–520K

Select item 350114210.

DQB1*06:02 allele specific expression varies by allelic dosage, not narcolepsy status

Karin Weiner lachmi, Ling Lin, Birgitte Rahbek Kornum, Tom Rico, Betty Lo, Adi Aran, Emmanuel Mignot

Hum Immunol. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Hum Immunol. 2012 Apr; 73(4): 405–410. Published online 2012 Jan 31. doi: 10.1016/j.humimm.2012.01.004

PMCID:: PMC3501142

Abstract Article PDF–705K

Select item 346569111.

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Juliane Winkelmann, Ling Lin, Barbara Schormair, Birgitte R. Kornum, Juliette Faraco, Giuseppe Plazzi, Atle Melberg, Ferdinando Cornelio, Alexander E. Urban, Fabio Pizza, Francesca Poli, Fabian Grubert, Thomas Wieland, Elisabeth Graf, Joachim Hallmayer, Tim M. Strom, Emmanuel Mignot

Hum Mol Genet. 2012 May 15; 21(10): 2205–2210. Published online 2012 Feb 9. doi: 10.1093/hmg/dds035

PMCID:: PMC3465691

Abstract Article PDF–339K

Select item 341024812.

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Jung Min Ko, Choong Ho Shin, Sei Won Yang, Moon Woo Seong, Sung Sup Park, Junghan Song

J Korean Med Sci. 2012 Aug; 27(8): 961–964. Published online 2012 Jul 25. doi: 10.3346/jkms.2012.27.8.961

PMCID:: PMC3410248

Abstract Article PDF–667K

Select item 379785513.

Hypersomnolence and reduced activity in pan-leptin receptor knockout mice

Yuping Wang, Junyun He, Abba J. Kastin, Hung Hsuchou, Weihong Pan

J Mol Neurosci. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: J Mol Neurosci. 2013 Nov; 51(3): 1038–1045. Published online 2013 Aug 18. doi: 10.1007/s12031-013-0093-6

PMCID:: PMC3797855

Abstract Article PDF–1.3M

Select item 331615414.

TRIB1 constitutes a molecular link between regulation of sleep and lipid metabolism in humans

H M Ollila, S Utge, E Kronholm, V Aho, W Van Leeuwen, K Silander, T Partonen, M Perola, J Kaprio, V Salomaa, M Sallinen, M Härmä, T Porkka-Heiskanen, T Paunio

Transl Psychiatry. 2012 Mar; 2(3): e97. Published online 2012 Mar 20. doi: 10.1038/tp.2012.20

PMCID:: PMC3316154

Abstract Article PDF–375K

Select item 331468015.

Increased Incidence and Clinical Picture of Childhood Narcolepsy following the 2009 H1N1 Pandemic Vaccination Campaign in Finland

Markku Partinen, Outi Saarenpää-Heikkilä, Ismo Ilveskoski, Christer Hublin, Miika Linna, Päivi Olsén, Pekka Nokelainen, Reija Alén, Tiina Wallden, Merimaaria Espo, Harri Rusanen, Jan Olme, Heli Sätilä, Harri Arikka, Pekka Kaipainen, Ilkka Julkunen, Turkka Kirjavainen

PLoS One. 2012; 7(3): e33723. Published online 2012 Mar 28. doi: 10.1371/journal.pone.0033723

PMCID:: PMC3314680

Abstract Article PDF–389K

Select item 328827916.

TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy

Fang Han, Ling Lin, Jing Li, Adi Aran, Song X. Dong, Pei. An, Long Zhao, Qian Y. Li, Han Yan, Jie S. Wang, Hui Y. Gao, Mei Li, Zhan C. Gao, Kingman P. Strohl, Emmanuel Mignot

Sleep Med. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Sleep Med. 2012 Mar; 13(3): 269–272. Published online 2011 Dec 15. doi: 10.1016/j.sleep.2011.06.020

PMCID:: PMC3288279

Abstract Article PDF–320K

Select item 328814417.

Birth Order and Narcolepsy Risk Among Genetically Susceptible Individuals: a Population-based Case-control Study

Nathaniel F. Watson, Thanh G.N. Ton, Thomas D. Koepsell, W.T. Longstreth, Jr

Sleep Med. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Sleep Med. 2012 Mar; 13(3): 310–313. Published online 2012 Jan 26. doi: 10.1016/j.sleep.2011.09.010

PMCID:: PMC3288144

Abstract Article PDF–150K

Select item 325549018.

Use of PCR with Sequence-specific Primers for High-Resolution Human Leukocyte Antigen Typing of Patients with Narcolepsy

Hye In Woo, Eun Yeon Joo, Seung Bong Hong, Kyung Wha Lee, Eun-Suk Kang

Ann Lab Med. 2012 Jan; 32(1): 57–65. Published online 2011 Dec 20. doi: 10.3343/alm.2012.32.1.57

PMCID:: PMC3255490

Abstract Article PDF–511K

Select item 319041619.

Behavioral and Genetic Markers of Sleepiness

Namni Goel, David F. Dinges

J Clin Sleep Med. 2011 Oct 15; 7(5 Suppl): S19–S21. doi: 10.5664/JCSM.1348

PMCID:: PMC3190416

Abstract Article PDF–474K

Select item 316981620.

A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

Hyun Hor, Luca Bartesaghi, Zoltán Kutalik, José L. Vicário, Clara de Andrés, Corinne Pfister, Gert J. Lammers, Nicolas Guex, Roman Chrast, Mehdi Tafti, Rosa Peraita-Adrados

Am J Hum Genet. 2011 Sep 9; 89(3): 474–479. doi: 10.1016/j.ajhg.2011.08.007

Correction in:: Am J Hum Genet. 2012 Aug 10; 91(2): 396.

PMCID:: PMC3169816

Abstract Article PDF–280K

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