Literature DB >> 32039647

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.

Takaaki Hayashi1,2, Satoshi Katagiri1, Kei Mizobuchi1, Kazutoshi Yoshitake3, Shuhei Kameya4, Tomokazu Matsuura5, Takeshi Iwata3, Tadashi Nakano1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 32039647     DOI： 10.1080/13816810.2020.1723119

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


× No keyword cloud information.
  7 in total

Review 1.  The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.

Authors:  Xiu-Rong Huang; Bei-Sha Tang; Peng Jin; Ji-Feng Guo
Journal:  Mol Neurobiol       Date:  2021-10-31       Impact factor: 5.590

Review 2.  Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.

Authors:  Zhi-Dong Zhou; Joseph Jankovic; Tetsuo Ashizawa; Eng-King Tan
Journal:  Nat Rev Neurol       Date:  2022-01-12       Impact factor: 44.711

3.  Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease.

Authors:  Chang Liu; Xinghua Luan; Xiaohong Liu; Xiangning Wang; Xuan Cai; Tingting Li; Li Cao; Da Long
Journal:  Neurol Sci       Date:  2021-11-19       Impact factor: 3.830

4.  CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.

Authors:  Masashi Ogasawara; Aritoshi Iida; Theerawat Kumutpongpanich; Ayami Ozaki; Yasushi Oya; Hirofumi Konishi; Akinori Nakamura; Ryuta Abe; Hiroshi Takai; Ritsuko Hanajima; Hiroshi Doi; Fumiaki Tanaka; Hisayoshi Nakamura; Ikuya Nonaka; Zhaoxia Wang; Shinichiro Hayashi; Satoru Noguchi; Ichizo Nishino
Journal:  Acta Neuropathol Commun       Date:  2020-11-25       Impact factor: 7.801

Review 5.  Clinical and mechanism advances of neuronal intranuclear inclusion disease.

Authors:  Yueqi Liu; Hao Li; Xuan Liu; Bin Wang; Hao Yang; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Front Aging Neurosci       Date:  2022-09-13       Impact factor: 5.702

6.  Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.

Authors:  Natsuko Nakamura; Kazushige Tsunoda; Akihiko Mitsutake; Shota Shibata; Tatsuo Mano; Yu Nagashima; Hiroyuki Ishiura; Atsushi Iwata; Tatsushi Toda; Shoji Tsuji; Hiromasa Sawamura
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-09-01       Impact factor: 4.799

7.  Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.

Authors:  Gerrald A Lodewijk; Diana P Fernandes; Iraklis Vretzakis; Jeanne E Savage; Frank M J Jacobs
Journal:  Mol Biol Evol       Date:  2020-09-01       Impact factor: 16.240
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.