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Items: 13

1.
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis
Mario Arturo Bautista-Medina, Hugo Leonid Gallardo-Blanco, Laura Elia Martinez-Garza, Ricardo Martin Cerda-Flores, Fernando Javier Lavalle-Gonzalez, Jesus Zacarias Villarreal-Perez
Biomed Rep. 2020 Oct; 13(4): 24. Published online 2020 Jul 17. doi: 10.3892/br.2020.1331
PMCID:
PMC7403830
AbstractArticlePDF–390K
2.
PharmGKB summary: very important pharmacogene information for CACNA1S
Katrin Sangkuhl, Robert T. Dirksen, Maria L. Alvarellos, Russ B. Altman, Teri E. Klein
Pharmacogenet Genomics. Author manuscript; available in PMC 2021 Feb 1.
Published in final edited form as: Pharmacogenet Genomics. 2020 Feb; 30(2): 34–44. doi: 10.1097/FPC.0000000000000393
PMCID:
PMC7008936
AbstractArticlePDF–379K
3.
Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study
Shuang-Xia Zhao, Wei Liu, Jun Liang, Guan-Qi Gao, Xiao-Mei Zhang, Yu Yao, Hai-Ning Wang, Fei-Fei Yuan, Li-Qiong Xue, Yu-Ru Ma, Le-Le Zhang, Xiao-Ping Ye, Qian-Yue Zhang, Feng Sun, Rui-Jia Zhang, Shao-Ying Yang, Ming Zhan, Wen-Hua Du, Bing-Li Liu, Xia Chen, Zhi-Yi Song, Xue-Song Li, Ping Li, Ying Ru, Chun-Lin Zuo, Sheng-Xian Li, Bing Han, Hui Zhu, Jie Qiao, Miao Xuan, Bin Su, Fei Sun, Jun-Hua Ma, Jia-Lun Chen, Hao-Ming Tian, Sai-Juan Chen, Huai-Dong Song
JAMA Netw Open. 2019 May; 2(5): e193348. Published online 2019 May 3. doi: 10.1001/jamanetworkopen.2019.3348
PMCID:
PMC6503496
AbstractArticle
4.
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis
CHUNXIANG FAN, MARIUS KUHN, ALEXANDER PEPLER MBIOL, JAMES GROOME, VERN WINSTON, SASKIA BISKUP, FRANK LEHMANN-HORN, KARIN JURKAT-ROTT
Acta Myol. 2018 Sep; 37(3): 193–203. Published online 2018 Sep 1.
PMCID:
PMC6390110
AbstractArticlePDF–281K
5.
Periodic Paralysis as a New Phenotype of Resistance to Thyroid Hormone Syndrome in a Chinese Male Adult
Shikun Ma, Mingming Hu, Hongbo Yang, Xiaolan Lian, Yanqiu Jiang
J Clin Endocrinol Metab. 2016 Feb; 101(2): 349–352. Published online 2015 Dec 10. doi: 10.1210/jc.2015-3564
PMCID:
PMC4880120
AbstractArticle
6.
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients
Marius Kuhn, Karin Jurkat-Rott, Frank Lehmann-Horn
J Neurol Neurosurg Psychiatry. 2016 Jan; 87(1): 49–52. Published online 2015 Apr 16. doi: 10.1136/jnnp-2014-309293
PMCID:
PMC4717442
AbstractArticlePDF–319K
7.
The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis
Xiaobing Li, Sheng Yao, Yining Xiang, Xiaolei Zhang, Xiangbing Wu, Laimin Luo, Haihua Huang, Min Zhu, Hui Wan, Daojun Hong
BMC Neurol. 2015; 15: 38. Published online 2015 Mar 21. doi: 10.1186/s12883-015-0290-8
PMCID:
PMC4371807
AbstractArticlePDF–363K
8.
Muscle Channelopathies: the Nondystrophic Myotonias and Periodic Paralyses
Jeffrey M. Statland, Richard J. Barohn
Continuum (Minneap Minn) 2013 Dec; 19(6 Muscle Disease): 1598–1614. doi: 10.1212/01.CON.0000440661.49298.c8
PMCID:
PMC4234136
AbstractArticlePDF–1.0M
9.
Extracellular Potassium Homeostasis: Insights from Hypokalemic Periodic Paralysis
Chih-Jen Cheng, Elizabeth Kuo, Chou-Long Huang
Semin Nephrol. Author manuscript; available in PMC 2014 Aug 13.
Published in final edited form as: Semin Nephrol. 2013 May; 33(3): 237–247. doi: 10.1016/j.semnephrol.2013.04.004
PMCID:
PMC4131448
AbstractArticlePDF–752K
10.
Mechanism of Thyrotoxic Periodic Paralysis
Shih-Hua Lin, Chou-Long Huang
J Am Soc Nephrol. 2012 Jun; 23(6): 985–988. doi: 10.1681/ASN.2012010046
PMCID:
PMC3358768
AbstractArticle
11.
Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis
Chih-Jen Cheng, Shih-Hua Lin, Yi-Fen Lo, Sung-Sen Yang, Yu-Juei Hsu, Stephen C. Cannon, Chou-Long Huang
J Biol Chem. 2011 Aug 5; 286(31): 27425–27435. Published online 2011 Jun 10. doi: 10.1074/jbc.M111.249656
Correction in:
J Biol Chem. 2011 Sep 23; 286(38): 33707.
PMCID:
PMC3149336
AbstractArticlePDF–2.7M
12.
Kir2.6 Regulates the Surface Expression of Kir2.x Inward Rectifier Potassium Channels
Lior Dassau, Lisa R. Conti, Carolyn M. Radeke, Louis J. Ptáček, Carol A. Vandenberg
J Biol Chem. 2011 Mar 18; 286(11): 9526–9541. Published online 2011 Jan 5. doi: 10.1074/jbc.M110.170597
PMCID:
PMC3059001
AbstractArticlePDF–5.1M
13.
Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
Devon P. Ryan, Magnus R. Dias da Silva, Tuck Wah Soong, Bertrand Fontaine, Matt R. Donaldson, Annie W.C. Kung, Wallaya Jongjaroenprasert, Mui Cheng Liang, Daphne H.C. Khoo, Jin Seng Cheah, Su Chin Ho, Harold S. Bernstein, Rui M.B. Macie, Robert H. Brown, Jr., Louis J. Ptáčcek
Cell. Author manuscript; available in PMC 2010 Jun 14.
Published in final edited form as: Cell. 2010 Jan 8; 140(1): 88–98. doi: 10.1016/j.cell.2009.12.024
PMCID:
PMC2885139
AbstractArticlePDF–2.5M

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