PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like Nystagmus-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like Nystagmus

Published:2022-03-24 Issue: Volume:Publish Ahead of Print Page:
ISSN:1070-8022
Container-title:Journal of Neuro-Ophthalmology
language:en
Short-container-title:

Author:

Seo Yuri,Kim Tae Young,Won Dongju,Choi Jong Rak,Seo Go Hun,Lee Seung-Tae,Han Jinu

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Ophthalmology

Reference5 articles.

1. Functional genomic screen for modulators of ciliogenesis and cilium length;Kim;Nature,2010

2. Expression analysis and essential role of the putative tyrosine phosphatase his-domain-containing protein tyrosine phosphatase (HD-PTP);Gingras;Int J Dev Biol.,2009

3. Tsg101 is necessary for the establishment and maintenance of mouse retinal pigment epithelial cell polarity;Le;Mol Cell,2021

4. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities;Bend;Eur J Hum Genet.,2020

5. Final exon frameshift biallelic PTPN23 variants are associated with microcephalic complex hereditary spastic paraplegia;Khalaf-Nazzal;Brain Sci.,2021

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases;JAMA Network Open;2024-05-31

2. Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy;Frontiers in Neurology;2022-08-22

3. HD-PTP/PTPN23 hypomorphic mice display lipodystrophy;2022-08-03

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3