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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. Among authors: jankovic j. 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.
Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. Swoboda KJ, et al. Among authors: jankovic j. Neurology. 2000 Jul 25;55(2):224-30. doi: 10.1212/wnl.55.2.224. Neurology. 2000. PMID: 10908896
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Bruno MK, et al. Among authors: jankovic j. Neurology. 2004 Dec 28;63(12):2280-7. doi: 10.1212/01.wnl.0000147298.05983.50. Neurology. 2004. PMID: 15623687 Review.
Minocycline in Huntington's disease: a pilot study.
Thomas M, Ashizawa T, Jankovic J. Thomas M, et al. Among authors: jankovic j. Mov Disord. 2004 Jun;19(6):692-5. doi: 10.1002/mds.20018. Mov Disord. 2004. PMID: 15197710 Clinical Trial.
1,254 results