Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Published:2003-06 Issue:6 Volume:21 Page:656-656
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Baris Olivier,Delettre Cécile,Amati-Bonneau Patrizia,Surget Marie-Odile,Charlin Jean-François,Catier Antoine,Derieux Laurence,Guyomard Jean-Laurent,Dollfus Hélène,Jonveaux Philippe,Ayuso Carmen,Maumenee Irene,Lorenz Birgit,Mohammed Shehla,Tourmen Yves,Bonneau Dominique,Malthièry Yves,Hamel Christian,Reynier Pascal

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 52 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. Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management;Progress in Retinal and Eye Research;2024-07

2. What Is the Role of Mitochondrial Fission in Neurologic Disease?;Neurology;2022-04-18

3. Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults;Eye;2022-03-10

4. First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant;Genes;2022-03-08

5. Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants;PLOS ONE;2021-07-09

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