169 related articles for article (PubMed ID: 32777681)
1. Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation.
Ishiura H; Tsuji S
Curr Opin Genet Dev; 2020 Dec; 65():176-185. PubMed ID: 32777681
[TBL] [Abstract][Full Text] [Related]
2. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H; Shibata S; Yoshimura J; Suzuki Y; Qu W; Doi K; Almansour MA; Kikuchi JK; Taira M; Mitsui J; Takahashi Y; Ichikawa Y; Mano T; Iwata A; Harigaya Y; Matsukawa MK; Matsukawa T; Tanaka M; Shirota Y; Ohtomo R; Kowa H; Date H; Mitsue A; Hatsuta H; Morimoto S; Murayama S; Shiio Y; Saito Y; Mitsutake A; Kawai M; Sasaki T; Sugiyama Y; Hamada M; Ohtomo G; Terao Y; Nakazato Y; Takeda A; Sakiyama Y; Umeda-Kameyama Y; Shinmi J; Ogata K; Kohno Y; Lim SY; Tan AH; Shimizu J; Goto J; Nishino I; Toda T; Morishita S; Tsuji S
Nat Genet; 2019 Aug; 51(8):1222-1232. PubMed ID: 31332380
[TBL] [Abstract][Full Text] [Related]
3. Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.
Ishiura H; Tsuji S; Toda T
J Hum Genet; 2023 Mar; 68(3):169-174. PubMed ID: 36670296
[TBL] [Abstract][Full Text] [Related]
4. Trinucleotide repeat expansion in neurological disease.
La Spada AR; Paulson HL; Fischbeck KH
Ann Neurol; 1994 Dec; 36(6):814-22. PubMed ID: 7998766
[TBL] [Abstract][Full Text] [Related]
5. Repeat expansion diseases.
Paulson H
Handb Clin Neurol; 2018; 147():105-123. PubMed ID: 29325606
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
Saito R; Shimizu H; Miura T; Hara N; Mezaki N; Higuchi Y; Miyashita A; Kawachi I; Sanpei K; Honma Y; Onodera O; Ikeuchi T; Kakita A
Acta Neuropathol Commun; 2020 Jun; 8(1):75. PubMed ID: 32493488
[No Abstract] [Full Text] [Related]
8. Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target.
Krzyzosiak WJ; Sobczak K; Wojciechowska M; Fiszer A; Mykowska A; Kozlowski P
Nucleic Acids Res; 2012 Jan; 40(1):11-26. PubMed ID: 21908410
[TBL] [Abstract][Full Text] [Related]
9. Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
Boivin M; Charlet-Berguerand N
Front Genet; 2022; 13():843014. PubMed ID: 35295941
[TBL] [Abstract][Full Text] [Related]
10. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
Koide R; Ikeuchi T; Onodera O; Tanaka H; Igarashi S; Endo K; Takahashi H; Kondo R; Ishikawa A; Hayashi T
Nat Genet; 1994 Jan; 6(1):9-13. PubMed ID: 8136840
[TBL] [Abstract][Full Text] [Related]
11. Cellular toxicity of expanded RNA repeats: focus on RNA foci.
Wojciechowska M; Krzyzosiak WJ
Hum Mol Genet; 2011 Oct; 20(19):3811-21. PubMed ID: 21729883
[TBL] [Abstract][Full Text] [Related]
12. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
Ranum LP; Lundgren JK; Schut LJ; Ahrens MJ; Perlman S; Aita J; Bird TD; Gomez C; Orr HT
Am J Hum Genet; 1995 Sep; 57(3):603-8. PubMed ID: 7668288
[TBL] [Abstract][Full Text] [Related]
13. Clinical features and reclassification of essential tremor with NOTCH2NLC GGC repeat expansions based on a long-term follow-up.
Zhou X; Huang H; He R; Zeng S; Liu Z; Xu Q; Guo J; Yan X; Duan R; Li J; Tang B; Xu Y; Sun Q
Eur J Neurol; 2022 Dec; 29(12):3600-3610. PubMed ID: 36086903
[TBL] [Abstract][Full Text] [Related]
14. Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Vegezzi E; Ishiura H; Bragg DC; Pellerin D; Magrinelli F; Currò R; Facchini S; Tucci A; Hardy J; Sharma N; Danzi MC; Zuchner S; Brais B; Reilly MM; Tsuji S; Houlden H; Cortese A
Lancet Neurol; 2024 Jul; 23(7):725-739. PubMed ID: 38876750
[TBL] [Abstract][Full Text] [Related]
15. Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.
Tan EC; Lai PS
Expert Rev Mol Diagn; 2005 Jan; 5(1):101-9. PubMed ID: 15723596
[TBL] [Abstract][Full Text] [Related]
16. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Yu J; Shan J; Yu M; Di L; Xie Z; Zhang W; Lv H; Meng L; Zheng Y; Zhao Y; Gang Q; Guo X; Wang Y; Xi J; Zhu W; Da Y; Hong D; Yuan Y; Yan C; Wang Z; Deng J
Am J Hum Genet; 2022 Mar; 109(3):533-541. PubMed ID: 35148830
[TBL] [Abstract][Full Text] [Related]
17. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T; Toyota T; Miyatake S; Mitsuhashi S; Doi H; Kudo Y; Kishida H; Hayashi N; Tsuburaya RS; Kinoshita M; Fukuyama T; Fukuda H; Koshimizu E; Tsuchida N; Uchiyama Y; Fujita A; Takata A; Miyake N; Kato M; Tanaka F; Adachi H; Matsumoto N
Brain; 2021 May; 144(4):1103-1117. PubMed ID: 33791773
[TBL] [Abstract][Full Text] [Related]
18. RNA toxicity and foci formation in microsatellite expansion diseases.
Zhang N; Ashizawa T
Curr Opin Genet Dev; 2017 Jun; 44():17-29. PubMed ID: 28208060
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H; Doi K; Mitsui J; Yoshimura J; Matsukawa MK; Fujiyama A; Toyoshima Y; Kakita A; Takahashi H; Suzuki Y; Sugano S; Qu W; Ichikawa K; Yurino H; Higasa K; Shibata S; Mitsue A; Tanaka M; Ichikawa Y; Takahashi Y; Date H; Matsukawa T; Kanda J; Nakamoto FK; Higashihara M; Abe K; Koike R; Sasagawa M; Kuroha Y; Hasegawa N; Kanesawa N; Kondo T; Hitomi T; Tada M; Takano H; Saito Y; Sanpei K; Onodera O; Nishizawa M; Nakamura M; Yasuda T; Sakiyama Y; Otsuka M; Ueki A; Kaida KI; Shimizu J; Hanajima R; Hayashi T; Terao Y; Inomata-Terada S; Hamada M; Shirota Y; Kubota A; Ugawa Y; Koh K; Takiyama Y; Ohsawa-Yoshida N; Ishiura S; Yamasaki R; Tamaoka A; Akiyama H; Otsuki T; Sano A; Ikeda A; Goto J; Morishita S; Tsuji S
Nat Genet; 2018 Apr; 50(4):581-590. PubMed ID: 29507423
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
