189 related articles for article (PubMed ID: 32002278)
21. Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.
Mao CY; Shi CH; Song B; Wu J; Ji Y; Qin J; Li YS; Wang JJ; Shang DD; Sun SL; Xu YM
J Neurol Sci; 2014 May; 340(1-2):91-3. PubMed ID: 24661410
[TBL] [Abstract][Full Text] [Related]
22. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
Tan GH; Liu YY; Wang L; Li K; Zhang ZQ; Li HF; Yang ZF; Li Y; Li D; Wu MY; Yu CL; Long JJ; Chen RC; Li LX; Yin LP; Liu JW; Cheng XW; Shen Q; Shu YS; Sakimura K; Liao LJ; Wu ZY; Xiong ZQ
Cell Res; 2018 Jan; 28(1):90-110. PubMed ID: 29056747
[TBL] [Abstract][Full Text] [Related]
23. Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
Calame DJ; Xiao J; Khan MM; Hollingsworth TJ; Xue Y; Person AL; LeDoux MS
Neuroscience; 2020 Nov; 448():272-286. PubMed ID: 32891704
[TBL] [Abstract][Full Text] [Related]
24. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.
Li HF; Chen WJ; Ni W; Wang KY; Liu GL; Wang N; Xiong ZQ; Xu J; Wu ZY
Neurology; 2013 Apr; 80(16):1534-5. PubMed ID: 23535490
[No Abstract] [Full Text] [Related]
25. PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.
Xu K; Huang SS; Yue DY; Li G; Zhu SQ; Liu XY
Curr Med Sci; 2022 Apr; 42(2):280-285. PubMed ID: 35438471
[TBL] [Abstract][Full Text] [Related]
26. 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; 12():93. PubMed ID: 22985072
[TBL] [Abstract][Full Text] [Related]
27. Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.
Liu D; Zhang Y; Wang Y; Chen C; Li X; Zhou J; Song Z; Xiao B; Rasco K; Zhang F; Wen S; Li G
Sci Rep; 2016 May; 6():25790. PubMed ID: 27173777
[TBL] [Abstract][Full Text] [Related]
28. [Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].
Zhu XM; Gong YH; Lu S; Cheng SC; Yao BZ
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Nov; 19(11):1169-1173. PubMed ID: 29132464
[TBL] [Abstract][Full Text] [Related]
29. PRRT2 is mutated in familial and non-familial benign infantile seizures.
Specchio N; Terracciano A; Trivisano M; Cappelletti S; Claps D; Travaglini L; Cusmai R; Marras CE; Zara F; Fusco L; Bertini E; Vigevano F
Eur J Paediatr Neurol; 2013 Jan; 17(1):77-81. PubMed ID: 22902423
[TBL] [Abstract][Full Text] [Related]
30. 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. PubMed ID: 23551744
[TBL] [Abstract][Full Text] [Related]
31. [Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia].
Zhang H; Shi W; Xiao H; Wu D; Qin L; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):61-3. PubMed ID: 26829736
[TBL] [Abstract][Full Text] [Related]
32. Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia.
Li L; Lei D; Suo X; Li X; Yang C; Yang T; Ren J; Chen G; Zhou D; Kemp GJ; Gong Q
Hum Brain Mapp; 2020 Oct; 41(14):3855-3866. PubMed ID: 32592228
[TBL] [Abstract][Full Text] [Related]
33. PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia.
Pan Y; Liu Q; Zhang J; Yang Y; Tian Y; Zeng J; Yin P; Mei L; Xiong WC; Li XJ; Li S; Tang B
Biochem Biophys Res Commun; 2020 Feb; 522(3):553-559. PubMed ID: 31785815
[TBL] [Abstract][Full Text] [Related]
34. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
Dale RC; Gardiner A; Antony J; Houlden H
Dev Med Child Neurol; 2012 Oct; 54(10):958-60. PubMed ID: 22845787
[TBL] [Abstract][Full Text] [Related]
35. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Silveira-Moriyama L; Gardiner AR; Meyer E; King MD; Smith M; Rakshi K; Parker A; Mallick AA; Brown R; Vassallo G; Jardine PE; Guerreiro MM; Lees AJ; Houlden H; Kurian MA
Dev Med Child Neurol; 2013 Apr; 55(4):327-34. PubMed ID: 23363396
[TBL] [Abstract][Full Text] [Related]
36. [An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures].
Tanabe Y; Taira T; Shimotake A; Inoue T; Awaya T; Kato T; Kuzuya A; Ikeda A; Takahashi R
Rinsho Shinkeigaku; 2019 Mar; 59(3):144-148. PubMed ID: 30814447
[TBL] [Abstract][Full Text] [Related]
37. 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. PubMed ID: 23771590
[TBL] [Abstract][Full Text] [Related]
38. A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.
Baldi S; Zhu JL; Hu QY; Wang JL; Zhang JB; Zhang SH
Behav Neurol; 2020; 2020():2097059. PubMed ID: 32509037
[TBL] [Abstract][Full Text] [Related]
39. Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation.
Fan L; Mao C; Shi C; Fan Y; Liu F; Zheng H; Su Y; Liu H; Wang Y; Liu YT; Yang J; Xu Y
Stem Cell Res; 2021 Mar; 51():102210. PubMed ID: 33550051
[TBL] [Abstract][Full Text] [Related]
40. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Balagura G; Riva A; Marchese F; Iacomino M; Madia F; Giacomini T; Mancardi MM; Amadori E; Vari MS; Salpietro V; Russo A; Messana T; Vignoli A; Chiesa V; Giordano L; Accorsi P; Caffi L; Orsini A; Bonuccelli A; Santucci M; Vecchi M; Vanadia F; Milito G; Fusco C; Cricchiutti G; Carpentieri M; Margari L; Spalice A; Beccaria F; Benfenati F; Zara F; Striano P
Eur J Paediatr Neurol; 2020 Sep; 28():193-197. PubMed ID: 32651081
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]