‘Behr syndrome’ with OPA1 compound heterozygote mutations-Reference-Cited by-同舟云学术

‘Behr syndrome’ with OPA1 compound heterozygote mutations

Published:2014-08-21 Issue:1 Volume:138 Page:e321-e321
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Carelli Valerio,Sabatelli Mario,Carrozzo Rosalba,Rizza Teresa,Schimpf Simone,Wissinger Bernd,Zanna Claudia,Rugolo Michela,La Morgia Chiara,Caporali Leonardo,Carbonelli Michele,Barboni Piero,Tonon Caterina,Lodi Raffaele,Bertini Enrico

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/138/1/e321/11140227/awu234.pdf

Reference12 articles.

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

2. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews;Anikster;Am J Hum Genet,2001

3. Die komplizierte, hereditar-familiare Optikusatrophie des Kindesalters – ein bisher nicht beschriebener Symptomkomplex;Behr;Klin Mbl Augenheilkd,1909

4. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier;Bonifert;Brain,2014

5. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia;Costeff;Neurology,1989

Cited by 50 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. Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies;Frontiers in Genetics;2023-09-04

2. Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae;International Journal of Molecular Sciences;2023-06-27

3. Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness;Genes;2023-03-02

4. Mitochondrial optic neuropathies;Mitochondrial Diseases;2023

5. Mitochondrial quality control in the brain: The physiological and pathological roles;Frontiers in Neuroscience;2022-12-12