PMC Articles for MedGen (Select 95991) - PMC

Select item 111451001.

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant

Jonna Komulainen‐Ebrahim, Salla M. Kangas, Estrella López‐Martín, Timothy Feyma, Fernando Scaglia, Beatriz Martínez‐Delgado, Outi Kuismin, Maria Suo‐Palosaari, Lucinda Carr, Reetta Hinttala, Manju A. Kurian, Johanna Uusimaa

Mov Disord Clin Pract. 2024 Jun; 11(6): 708–715. Published online 2024 May 2. doi: 10.1002/mdc3.14051

PMCID:: PMC11145100

Abstract Article PDF–907K

Select item 110557712.

Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech

J Neurol. 2024; 271(5): 2859–2865. Published online 2024 Mar 5. doi: 10.1007/s00415-024-12271-x

PMCID:: PMC11055771

Abstract Article PDF–457K

Select item 79401683.

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 78795664.

Paroxysmal nocturnal haemoglobinuria

Anita Hill, Amy E. DeZern, Taroh Kinoshita, Robert A. Brodsky

Nat Rev Dis Primers. Author manuscript; available in PMC 2021 Feb 12.

Published in final edited form as: Nat Rev Dis Primers. 2017 May 18; 3: 17028. Published online 2017 May 18. doi: 10.1038/nrdp.2017.28

PMCID:: PMC7879566

Abstract Article PDF–1.2M

Select item 77347365.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya

Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794

PMCID:: PMC7734736

Abstract Article PDF–1.2M

Select item 66726586.

Nicotine-Induced Dystonic Arousal Complex in a Mouse Line Harboring a Human Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy Mutation

Yaroslav Teper, Douglas Whyte, Elizabeth Cahir, Henry A. Lester, Sharon R. Grady, Michael J. Marks, Bruce N. Cohen, Carlos Fonck, Tristan McClure-Begley, J. Michael McIntosh, Cesar Labarca, Andrew Lawrence, Feng Chen, Ilse Gantois, Philip J. Davies, Steven Petrou, Mark Murphy, John Waddington, Malcolm K. Horne, Samuel F. Berkovic, John Drago

J Neurosci. 2007 Sep 19; 27(38): 10128–10142. doi: 10.1523/JNEUROSCI.3042-07.2007

PMCID:: PMC6672658

Abstract Article PDF–531K

Select item 66717217.

Rats Harboring S284L Chrna4 Mutation Show Attenuation of Synaptic and Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype

Gang Zhu, Motohiro Okada, Shukuko Yoshida, Shinya Ueno, Fumiaki Mori, Tomoko Takahara, Ryo Saito, Yoshiki Miura, Akihiro Kishi, Masahiko Tomiyama, Akira Sato, Toshio Kojima, Goryu Fukuma, Koichi Wakabayashi, Koji Hase, Hiroshi Ohno, Hiroshi Kijima, Yukio Takano, Akihisa Mitsudome, Sunao Kaneko, Shinichi Hirose

J Neurosci. 2008 Nov 19; 28(47): 12465–12476. doi: 10.1523/JNEUROSCI.2961-08.2008

PMCID:: PMC6671721

Abstract Article PDF–918K

Select item 66225138.

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

Aurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, Pauline Dodet, Diane Doummar, Florence Riant, Christine Tranchant, Valérie Fraix, Mathieu Anheim, Asya Ekmen, Eavan McGovern, Marie Vidailhet, Isabelle Arnulf, Smaranda Leu-Semenescu

J Clin Sleep Med. 2019 Jul 15; 15(7): 1021–1029. Published online 2019 Jul 15. doi: 10.5664/jcsm.7886

PMCID:: PMC6622513

Abstract Article PDF–637K

Select item 65021289.

A clinical efficacy experience of Lacosamide on sleep quality in patients with Nocturnal Frontal Lobe Epilepsy (NFLE)

Mangiardi Marilena, Alfano Guido

Acta Biomed. 2018; 89(3): 397–399. doi: 10.23750/abm.v89i3.6956

PMCID:: PMC6502128

Abstract Article PDF–476K

Select item 625172910.

Common and rare GCH1 variants are associated with Parkinson disease

Uladzislau Rudakou, Bouchra Ouled Amar Bencheikh, Jennifer A. Ruskey, Lynne Krohn, Sandra B. Laurent, Dan Spiegelman, Christopher Liong, Stanley Fahn, Cheryl Waters, Oury Monchi, Edward A. Fon, Yves Dauvilliers, Roy N. Alcalay, Nicolas Dupré, Ziv Gan-Or

Neurobiol Aging. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Neurobiol Aging. 2019 Jan; 73: 231.e1–231.e6. Published online 2018 Sep 15. doi: 10.1016/j.neurobiolaging.2018.09.008

PMCID:: PMC6251729

Abstract Article PDF–153K

Select item 579124311.

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

L. Marti-Sanchez, J. D. Ortigoza-Escobar, A. Darling, M. Villaronga, H. Baide, M. Molero-Luis, M. Batllori, M. I. Vanegas, J. Muchart, L. Aquino, R. Artuch, A. Macaya, M. A. Kurian, Pérez Dueñas

Orphanet J Rare Dis. 2018; 13: 28. Published online 2018 Jan 30. doi: 10.1186/s13023-018-0758-x

PMCID:: PMC5791243

Abstract Article PDF–1.2M

Select item 507650112.

Functional Rescue of a Misfolded Drosophila melanogaster Dopamine Transporter Mutant Associated with a Sleepless Phenotype by Pharmacological Chaperones

Ameya Kasture, Ali El-Kasaby, Daniel Szöllősi, H. M. Mazhar Asjad, Alexandra Grimm, Thomas Stockner, Thomas Hummel, Michael Freissmuth, Sonja Sucic

J Biol Chem. 2016 Sep 30; 291(40): 20876–20890. Published online 2016 Aug 1. doi: 10.1074/jbc.M116.737551

PMCID:: PMC5076501

Abstract Article PDF–4.1M

Select item 467675313.

Dong-Hui Chen, Aurélie Méneret, Jennifer R. Friedman, Olena Korvatska, Alona Gad, Emily S. Bonkowski, Holly A. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon-Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

Neurology. 2015 Dec 8; 85(23): 2026–2035. doi: 10.1212/WNL.0000000000002058

PMCID:: PMC4676753

Abstract Article PDF–671K

Select item 455960714.

Sporadic nocturnal frontal lobe epilepsy: A consecutive series of 8 cases

Shih-Bin Yeh, Carlos H. Schenck

Sleep Sci. 2014 Sep; 7(3): 170–177. Published online 2014 Oct 5. doi: 10.1016/j.slsci.2014.09.016

PMCID:: PMC4559607

Abstract Article PDF–1.9M

Select item 447822915.

Non-motor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene

Anat Mirelman, Roy N. Alcalay, Rachel Saunders-Pullman, Kira Yasinovsky, Avner Thaler, Tanya Gurevich, Helen Mejia-Santana, Deborah Raymond, Mali Gana-Weisz, Anat Bar-Shira, Laurie Ozelius, Lorraine Clark, Avi Orr-Urtreger, Susan Bressman, Karen Marder, Nir Giladi, the LRRK2 AJ consortium

Mov Disord. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Mov Disord. 2015 Jun; 30(7): 981–986. Published online 2015 Mar 21. doi: 10.1002/mds.26213