Early-onset Behr syndrome due to compound heterozygous mutations in OPA1-Reference-Cited by-同舟云学术

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Published:2014-07-10 Issue:10 Volume:137 Page:e301-e301
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Bonneau Dominique,Colin Estelle,Oca Florine,Ferré Marc,Chevrollier Arnaud,Guéguen Naïg,Desquiret-Dumas Valérie,N'Guyen Sylvie,Barth Magalie,Zanlonghi Xavier,Rio Marlène,Desguerre Isabelle,Barnerias Christine,Momtchilova Marta,Rodriguez Diana,Slama Abdelhamid,Lenaers Guy,Procaccio Vincent,Amati-Bonneau Patrizia,Reynier Pascal

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference10 articles.

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

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

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

4. Hereditary optic neuropathies share a common mitochondrial coupling defect;Chevrollier;Ann Neurol,2008

5. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations;Ferré;Hum Mutat,2009

Cited by 69 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. Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy;eLife;2024-08-23

2. Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy;2024-07-30

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

4. Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene;Epilepsy & Behavior Reports;2024

5. 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