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Results: 1 to 20 of 115

1.

Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.

Luo C, Chen Y, Song W, Chen Q, Gong Q, Shang HF.

Neurol Sci. 2013 Nov;34(11):1925-31. doi: 10.1007/s10072-013-1408-7. Epub 2013 Mar 27.

PMID:
23532549
[PubMed - indexed for MEDLINE]
2.

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.

Chen YP, Song W, Yang J, Zheng ZZ, Huang R, Chen K, Zhao B, Chen XP, Burgunder JM, Shang HF.

Eur J Neurol. 2014;21(1):174-6. doi: 10.1111/ene.12122. Epub 2013 Mar 16.

PMID:
23496026
[PubMed - indexed for MEDLINE]
3.

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.

Wang JL, Mao X, Hu ZM, Li JD, Li N, Guo JF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tang BS.

Neurosci Lett. 2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26.

PMID:
23896529
[PubMed - indexed for MEDLINE]
4.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS.

Brain. 2011 Dec;134(Pt 12):3493-3501. doi: 10.1093/brain/awr289. Epub 2011 Nov 26.

PMID:
22120146
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.

Lee YC, Lee MJ, Yu HY, Chen C, Hsu CH, Lin KP, Liao KK, Chang MH, Liao YC, Soong BW.

PLoS One. 2012;7(8):e38543. doi: 10.1371/journal.pone.0038543. Epub 2012 Aug 1.

PMID:
22870186
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X.

BMC Neurol. 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209.

PMID:
24370076
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.

Li HF, Ni W, Xiong ZQ, Xu J, Wu ZY.

CNS Neurosci Ther. 2013 Jan;19(1):61-5. doi: 10.1111/cns.12034. Epub 2012 Nov 24.

PMID:
23176561
[PubMed - indexed for MEDLINE]
8.

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H.

Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17.

PMID:
23077024
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG.

J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9. Review.

PMID:
23299620
[PubMed - indexed for MEDLINE]
10.

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

Castiglioni C, López I, Riant F, Bertini E, Terracciano A.

Eur J Paediatr Neurol. 2013 May;17(3):254-8. doi: 10.1016/j.ejpn.2012.10.010. Epub 2012 Nov 19.

PMID:
23182655
[PubMed - indexed for MEDLINE]
11.

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

Fabbri M, Marini C, Bisulli F, Di Vito L, Elia A, Guerrini R, Mei D, Tinuper P.

Epileptic Disord. 2013 Jun;15(2):123-7. doi: 10.1684/epd.2013.0569.

PMID:
23771590
[PubMed - indexed for MEDLINE]
12.

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Hedera P, Xiao J, Puschmann A, Momčilović D, Wu SW, LeDoux MS.

BMC Neurol. 2012 Sep 18;12:93.

PMID:
22985072
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.

Tan LC, Methawasin K, Teng EW, Ng AR, Seah SH, Au WL, Liu JJ, Foo JN, Zhao Y, Tan EK.

Eur J Neurol. 2014 Apr;21(4):674-8. doi: 10.1111/ene.12142. Epub 2013 Mar 29.

PMID:
23551744
[PubMed - indexed for MEDLINE]
14.

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.

Wang K, Zhao X, Du Y, He F, Peng G, Luo B.

Brain Dev. 2013 Aug;35(7):664-6. doi: 10.1016/j.braindev.2012.07.018. Epub 2012 Aug 16.

PMID:
22902309
[PubMed - indexed for MEDLINE]
15.

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.

Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi YH, Tang BS, Liao WP.

Genes Brain Behav. 2013 Mar;12(2):234-40. doi: 10.1111/gbb.12008. Epub 2012 Dec 21.

PMID:
23190448
[PubMed - indexed for MEDLINE]
16.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P.

Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17.

PMID:
23077017
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.

Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E.

Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27.

PMID:
22744660
[PubMed - indexed for MEDLINE]
18.

Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Youn J, Kim JS, Lee M, Lee J, Roh H, Ki CS, Choa JW.

J Clin Neurol. 2014 Jan;10(1):50-4. doi: 10.3988/jcn.2014.10.1.50. Epub 2014 Jan 6.

PMID:
24465263
[PubMed]
Free PMC Article
19.

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

Groffen AJ, Klapwijk T, van Rootselaar AF, Groen JL, Tijssen MA.

J Neurol. 2013 Jan;260(1):93-9. doi: 10.1007/s00415-012-6592-5. Epub 2012 Jun 30.

PMID:
22752065
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X.

J Med Genet. 2012 Feb;49(2):79-82. doi: 10.1136/jmedgenet-2011-100653. Epub 2011 Dec 29.

PMID:
22209761
[PubMed - indexed for MEDLINE]

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