Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Epilepsy and POLG[original query] |
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Polymerase ? gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology (Baltimore, Md.) 2010 Nov 52 (5): 1791-6. Stewart Joanna D, Horvath Rita, Baruffini Enrico, Ferrero Iliana, Bulst Stefanie, Watkins Paul B, Fontana Robert J, Day Christopher P, Chinnery Patrick |
What is influencing the phenotype of the common homozygous polymerase-? mutation p.Ala467Thr? Brain : a journal of neurology 2012 Dec 135 (Pt 12): Pt 12. Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R |
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology 2012 Dec 54 (12): 1144-8. Appenzeller Silke, Helbig Ingo, Stephani Ulrich, Häusler Martin, Kluger Gerhard, Bungeroth May, Müller Stefanie, Kuhlenbäumer Gregor, van Baalen Andre |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia 2013 Jun 54 (6): 1002-11. Uusimaa Johanna, Gowda Vasantha, McShane Anthony, Smith Conrad, Evans Julie, Shrier Annie, Narasimhan Manisha, O'Rourke Anthony, Rajabally Yusuf, Hedderly Tammy, Cowan Frances, Fratter Carl, Poulton Joan |
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific reports 2017 Jan 7 40319. Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang |
POLG Mutations Are Probably Rare in the Han Chinese Population. Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2021 1 35 (4): 350-356. Yang Kun Fang, Meng Lin Yi, Zhang Yuan Feng, Yang Yong Chen, Cheng Hong Yi, Jiang Zhi Hu, Zhang Hong, Chen Yu C |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
Astrocytic pathology in Alpers' syndrome. Acta neuropathologica communications 2023 5 11 (1): 86. Laura A Smith, Chun Chen, Nichola Z Lax, Robert W Taylor, Daniel Erskine, Robert McFarla |
The Y831C Mutation of the POLG Gene in Dementia. Biomedicines 2023 5 11 (4): . Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Giuseppe Lanza, Mariagiovanna Cantone, Raffaele Ferri, Carmela Scude |
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- Page last updated:Apr 22, 2024
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