BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 37131242)

  • 1. NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
    Sone J; Ueno S; Akagi A; Miyahara H; Tamai C; Riku Y; Yabata H; Koizumi R; Hattori T; Hirose H; Koyanagi Y; Kobayashi R; Okada H; Kishimoto Y; Hashizume Y; Sobue G; Yoshida M; Iwasaki Y
    Acta Neuropathol Commun; 2023 May; 11(1):71. PubMed ID: 37131242
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.
    Nakamura N; Tsunoda K; Mitsutake A; Shibata S; Mano T; Nagashima Y; Ishiura H; Iwata A; Toda T; Tsuji S; Sawamura H
    Invest Ophthalmol Vis Sci; 2020 Sep; 61(11):27. PubMed ID: 32931575
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4.
    Liao YC; Wei CY; Chang FP; Chou YT; Hsu SL; Chung CP; Mizuguchi T; Matsumoto N; Yet SF; Lee YC
    Stroke; 2023 May; 54(5):1236-1245. PubMed ID: 36942588
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort.
    Chen Z; Xu Z; Cheng Q; Tan YJ; Ong HL; Zhao Y; Lim WK; Teo JX; Foo JN; Lee HY; Tan JMM; Hang L; Yu WY; Ting SKS; Tan EK; Lim TCC; Ng ASL
    Clin Genet; 2020 Sep; 98(3):274-281. PubMed ID: 32602554
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy.
    Liu YH; Chou YT; Chang FP; Lee WJ; Guo YC; Chou CT; Huang HC; Mizuguchi T; Chou CC; Yu HY; Yu KW; Wu HM; Tsai PC; Matsumoto N; Lee YC; Liao YC
    Brain; 2022 Sep; 145(9):3010-3021. PubMed ID: 35411397
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease.
    Liu M; Gao Y; Yuan Y; Liu X; Wang Y; Li L; Zhang X; Jiang C; Wang Q; Wang Y; Shi C; Xu Y; Yang J
    Neurol Sci; 2023 Oct; 44(10):3545-3556. PubMed ID: 37184590
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation.
    Fan Y; Li MJ; Yang J; Li SJ; Hao XY; Li JD; Wang YC; Tang MB; Zhang C; Shi JJ; Ma DR; Guo MN; Liu F; Shen S; Yao DB; Zuo CY; Mao CY; Hu ZW; Zhang S; Yang ZH; Guo GY; Yang JH; Xia ZP; Xu YM; Shi CH
    Brain; 2023 Aug; 146(8):3373-3391. PubMed ID: 36825461
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
    Kameyama S; Mizuguchi T; Doi H; Koyano S; Okubo M; Tada M; Shimizu H; Fukuda H; Tsuchida N; Uchiyama Y; Koshimizu E; Hamanaka K; Fujita A; Misawa K; Miyatake S; Kanai K; Tanaka F; Matsumoto N
    Genomics; 2022 Sep; 114(5):110469. PubMed ID: 36041634
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neuronal intranuclear inclusion disease tremor-dominant subtype: A mimicker of essential tremor.
    Yang D; Cen Z; Wang L; Chen X; Liu P; Wang H; Ouyang Z; Chen Y; Zhang F; Xie F; Wang B; Wu S; Yin H; Jiang B; Wang Z; Ji J; Luo W
    Eur J Neurol; 2022 Feb; 29(2):450-458. PubMed ID: 34750918
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neuronal intranuclear inclusion disease: recognition and update.
    Lu X; Hong D
    J Neural Transm (Vienna); 2021 Mar; 128(3):295-303. PubMed ID: 33599827
    [TBL] [Abstract][Full Text] [Related]  

  • 16. First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing.
    Miyamoto Y; Okazaki T; Watanabe K; Togawa M; Adachi T; Kato A; Ochiai R; Tamai C; Sone J; Maegaki Y
    Brain Dev; 2023 Jan; 45(1):70-76. PubMed ID: 36150977
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy.
    Fang P; Yu Y; Yao S; Chen S; Zhu M; Chen Y; Zou K; Wang L; Wang H; Xin L; Hong T; Hong D
    Ann Clin Transl Neurol; 2020 Apr; 7(4):517-526. PubMed ID: 32250060
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.
    Deng J; Zhou B; Yu J; Han X; Fu J; Li X; Xie X; Zhu M; Zheng Y; Guo X; Li P; Wang Q; Liu J; Zhang W; Yuan Y; Yao S; Wang Z; Hong D
    J Med Genet; 2022 May; 59(5):462-469. PubMed ID: 33766934
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Current advances in neuronal intranuclear inclusion disease.
    Bao L; Zuo D; Li Q; Chen H; Cui G
    Neurol Sci; 2023 Jun; 44(6):1881-1889. PubMed ID: 36795299
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Neuronal intranuclear inclusion disease (NIID)].
    Sone J
    Rinsho Shinkeigaku; 2020 Oct; 60(10):653-662. PubMed ID: 32893241
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.