254 related articles for article (PubMed ID: 33943039)
1. GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.
Yu J; Luan XH; Yu M; Zhang W; Lv H; Cao L; Meng L; Zhu M; Zhou B; Wu XR; Li P; Gang Q; Liu J; Shi X; Liang W; Jia Z; Yao S; Yuan Y; Deng J; Hong D; Wang Z
Ann Clin Transl Neurol; 2021 Jun; 8(6):1330-1342. PubMed ID: 33943039
[TBL] [Abstract][Full Text] [Related]
2. GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome.
Zhang W; Ma J; Shi J; Huang S; Zhao R; Pang X; Wang J; Guo J; Chang X
J Neurol; 2022 Aug; 269(8):4469-4477. PubMed ID: 35366689
[TBL] [Abstract][Full Text] [Related]
3. The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.
Huang XR; Tang BS; Jin P; Guo JF
Mol Neurobiol; 2022 Jan; 59(1):523-534. PubMed ID: 34718964
[TBL] [Abstract][Full Text] [Related]
4.
Fan Y; Xu Y; Shi C
J Med Genet; 2022 Jan; 59(1):1-9. PubMed ID: 34675123
[TBL] [Abstract][Full Text] [Related]
5. GGC Repeat Expansion of
Liao YC; Chang FP; Huang HW; Chen TB; Chou YT; Hsu SL; Jih KY; Liu YH; Hsiao CT; Fukukda H; Mizuguchi T; Lin KP; Lin CK; Matsumoto N; Kennerson M; Lee YC
Neurology; 2022 Jan; 98(2):e199-e206. PubMed ID: 34675106
[TBL] [Abstract][Full Text] [Related]
6. The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu J; Deng J; Guo X; Shan J; Luan X; Cao L; Zhao J; Yu M; Zhang W; Lv H; Xie Z; Meng L; Zheng Y; Zhao Y; Gang Q; Wang Q; Liu J; Zhu M; Zhou B; Li P; Liu Y; Wang Y; Yan C; Hong D; Yuan Y; Wang Z
Brain; 2021 Jul; 144(6):1819-1832. PubMed ID: 33693509
[TBL] [Abstract][Full Text] [Related]
7. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Tian Y; Wang JL; Huang W; Zeng S; Jiao B; Liu Z; Chen Z; Li Y; Wang Y; Min HX; Wang XJ; You Y; Zhang RX; Chen XY; Yi F; Zhou YF; Long HY; Zhou CJ; Hou X; Wang JP; Xie B; Liang F; Yang ZY; Sun QY; Allen EG; Shafik AM; Kong HE; Guo JF; Yan XX; Hu ZM; Xia K; Jiang H; Xu HW; Duan RH; Jin P; Tang BS; Shen L
Am J Hum Genet; 2019 Jul; 105(1):166-176. PubMed ID: 31178126
[TBL] [Abstract][Full Text] [Related]
8. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Ogasawara M; Iida A; Kumutpongpanich T; Ozaki A; Oya Y; Konishi H; Nakamura A; Abe R; Takai H; Hanajima R; Doi H; Tanaka F; Nakamura H; Nonaka I; Wang Z; Hayashi S; Noguchi S; Nishino I
Acta Neuropathol Commun; 2020 Nov; 8(1):204. PubMed ID: 33239111
[TBL] [Abstract][Full Text] [Related]
9. Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC.
Chen B; Jing J; Dong G; Shi Y; Zhang C; Zhang Y; Wang A; Tai H; Niu S; Wang X; Pan H; Zhang Z
Neurol Sci; 2023 May; 44(5):1769-1772. PubMed ID: 36809423
[TBL] [Abstract][Full Text] [Related]
10. GGC Repeat Expansion in the
Wang H; Yu J; Yu M; Deng J; Zhang W; Lv H; Liu J; Shi X; Liang W; Jia Z; Hong D; Meng L; Wang Z; Yuan Y
Front Genet; 2021; 12():694790. PubMed ID: 34306035
[TBL] [Abstract][Full Text] [Related]
11. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Ghaoui R; Palmio J; Brewer J; Lek M; Needham M; Evilä A; Hackman P; Jonson PH; Penttilä S; Vihola A; Huovinen S; Lindfors M; Davis RL; Waddell L; Kaur S; Yiannikas C; North K; Clarke N; MacArthur DG; Sue CM; Udd B
Neurology; 2016 Jan; 86(4):391-8. PubMed ID: 26718575
[TBL] [Abstract][Full Text] [Related]
12. Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis.
Jih KY; Chou YT; Tsai PC; Liao YC; Lee YC
Neurobiol Aging; 2021 Dec; 108():210-212. PubMed ID: 34392981
[TBL] [Abstract][Full Text] [Related]
13. Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases.
Zhong S; Lian Y; Luo W; Luo R; Wu X; Ji J; Ji Y; Ding J; Wang X
Acta Neuropathol; 2021 Dec; 142(6):1003-1023. PubMed ID: 34694469
[TBL] [Abstract][Full Text] [Related]
14. Long-read sequencing identified repeat expansions in the 5'UTR of the
Deng J; Gu M; Miao Y; Yao S; Zhu M; Fang P; Yu X; Li P; Su Y; Huang J; Zhang J; Yu J; Li F; Bai J; Sun W; Huang Y; Yuan Y; Hong D; Wang Z
J Med Genet; 2019 Nov; 56(11):758-764. PubMed ID: 31413119
[TBL] [Abstract][Full Text] [Related]
15. The role of NOTCH2NLC in Parkinson's disease: A clinical, neuroimaging, and pathological study.
Liu P; Yang D; Zhang F; Chen S; Xie F; Luo Y; Wang H; Chen Y; Lin Z; Wang L; Chen X; Wang B; Wu S; Ouyang Z; Cen Z; Luo W
Eur J Neurol; 2022 Jun; 29(6):1610-1618. PubMed ID: 35147270
[TBL] [Abstract][Full Text] [Related]
16. Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
Fukuda H; Yamaguchi D; Nyquist K; Yabuki Y; Miyatake S; Uchiyama Y; Hamanaka K; Saida K; Koshimizu E; Tsuchida N; Fujita A; Mitsuhashi S; Ohbo K; Satake Y; Sone J; Doi H; Morihara K; Okamoto T; Takahashi Y; Wenger AM; Shioda N; Tanaka F; Matsumoto N; Mizuguchi T
Clin Epigenetics; 2021 Nov; 13(1):204. PubMed ID: 34774111
[TBL] [Abstract][Full Text] [Related]
17. Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
Ma D; Tan YJ; Ng ASL; Ong HL; Sim W; Lim WK; Teo JX; Ng EYL; Lim EC; Lim EW; Chan LL; Tan LCS; Yi Z; Tan EK
JAMA Neurol; 2020 Dec; 77(12):1559-1563. PubMed ID: 32852534
[TBL] [Abstract][Full Text] [Related]
18. GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Liu Q; Chen J; Xue J; Zhou X; Tian Y; Xiao Q; Huang W; Pan Y; Zhou X; Li J; Zhao Y; Pan H; Wang Y; He R; Xiang Y; Tu T; Xu Q; Sun Q; Tan J; Yan X; Li J; Guo J; Shen L; Duan R; Tang B; Liu Z
Eur J Neurol; 2024 Feb; 31(2):e16145. PubMed ID: 37975799
[TBL] [Abstract][Full Text] [Related]
19. NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report.
Ji G; Zhao Y; Zhang J; Dong H; Wu H; Chen X; Qi X; Tian Y; Shen L; Yang G; Song X
BMC Neurol; 2022 Jul; 22(1):243. PubMed ID: 35788208
[TBL] [Abstract][Full Text] [Related]
20. Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J; Yu J; Li P; Luan X; Cao L; Zhao J; Yu M; Zhang W; Lv H; Xie Z; Meng L; Zheng Y; Zhao Y; Gang Q; Wang Q; Liu J; Zhu M; Guo X; Su Y; Liang Y; Liang F; Hayashi T; Maeda MH; Sato T; Ura S; Oya Y; Ogasawara M; Iida A; Nishino I; Zhou C; Yan C; Yuan Y; Hong D; Wang Z
Am J Hum Genet; 2020 Jun; 106(6):793-804. PubMed ID: 32413282
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]