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Year | Number of Results |
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2010 | 1 |
2011 | 1 |
2012 | 3 |
2015 | 1 |
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Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.
Cell. 2010 Jan 8;140(1):88-98. doi: 10.1016/j.cell.2009.12.024.
Cell. 2010.
PMID: 20074522
Free PMC article.
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ.
Lee HY, et al.
J Clin Invest. 2012 Feb;122(2):507-18. doi: 10.1172/JCI58470. Epub 2012 Jan 3.
J Clin Invest. 2012.
PMID: 22214848
Free PMC article.
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Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A, Missler M, Tsien RW, Jan LY, Fu YH, Ptáček LJ.
Shen Y, et al.
Proc Natl Acad Sci U S A. 2015 Mar 10;112(10):2935-41. doi: 10.1073/pnas.1501364112. Epub 2015 Feb 17.
Proc Natl Acad Sci U S A. 2015.
PMID: 25730884
Free PMC article.
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Familial cortical myoclonus with a mutation in NOL3.
Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptáček LJ.
Russell JF, et al.
Ann Neurol. 2012 Aug;72(2):175-83. doi: 10.1002/ana.23666.
Ann Neurol. 2012.
PMID: 22926851
Free PMC article.
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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ.
Lee HY, et al.
Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15.
Cell Rep. 2012.
PMID: 22832103
Free PMC article.
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