Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment-Reference-Cited by-同舟云学术

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Published:2011-04-28 Issue:6 Volume:155 Page:1298-1313
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rendtorff Nanna D.,Lodahl Marianne,Boulahbel Houda,Johansen Ida R.,Pandya Arti,Welch Katherine O.,Norris Virginia W.,Arnos Kathleen S.,Bitner-Glindzicz Maria,Emery Sarah B.,Mets Marilyn B.,Fagerheim Toril,Eriksson Kristina,Hansen Lars,Bruhn Helene,Möller Claes,Lindholm Sture,Ensgaard Stefan,Lesperance Marci M.,Tranebjaerg Lisbeth

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness;Amati-Bonneau;Ann Neurol,2005

2. OPA1-associated disorders: phenotypes and pathophysiology;Amati-Bonneau;Int J Biochem Cell Biol,2009

3. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene;Amati-Bonneau;Am J Ophthalmol,2003

4. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes;Amati-Bonneau;Brain,2008

5. A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart;Arnos;Am J Hum Genet,2008

Cited by 99 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. Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1;Journal of Clinical Medicine;2024-08-16

2. Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease;Genes;2024-07-25

3. 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

4. Hereditary Optic Neuropathies: An Updated Review;Journal of Clinical & Translational Ophthalmology;2024-06-26

5. Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity?;2024