Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

Published:2021-04-27 Issue:6 Volume:42 Page:1627-1639
ISSN:1538-4667
Container-title:Ear & Hearing
language:en
Short-container-title:

Author:

Santarelli Rosamaria,Scimemi Pietro,Costantini Marco,Domínguez-Ruiz María,Rodríguez-Ballesteros Montserrat,del Castillo Ignacio

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Speech and Hearing,Otorhinolaryngology

Reference32 articles.

1. A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.;Al-Wardy;Saudi Med J,2016

2. Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.;Chiu;Audiol Neurootol,2010

3. Riconoscimento (parole bisillabiche, frasi) nel bambino.;De Filippis;Protocollo comune di valutazione in audiologia riabilitativa (PCVRAR),1997

4. Are inner or outer hair cells the source of summating potentials recorded from the round window?;Durrant;J Acoust Soc Am,1998

5. Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.;Fedick;Appl Clin Genet,2016

Cited by 9 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. A free intravesicular C-terminal of otoferlin is essential for synaptic vesicle docking and fusion at auditory inner hair cell ribbon synapses;Progress in Neurobiology;2024-09

2. AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial;The Lancet;2024-05

3. A cure for deafness?;Med;2024-04

4. Otoferlin requires a free intravesicular C-terminal end for synaptic vesicle docking and fusion;2024-03-20

5. AAV‐Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness;Advanced Science;2024-01-08

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