Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations-Reference-Cited by-同舟云学术

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

Published:2011-08 Issue:4 Volume:103 Page:383-387
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Schaaf Christian P.,Blazo Maria,Lewis Richard Alan,Tonini Ross E.,Takei Hidehiro,Wang Jing,Wong Lee-Jun,Scaglia Fernando

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. P. Yu-Wai-Man, P.G. Griffiths, A. Burke, P.W. Sellar, M.P. Clarke, L. Gnanaraj, D. Ah-Kine, G. Hudson, B. Czermin, R.W. Taylor, R. Horvath, P.F. Chinnery, The prevalence and natural history of dominant optic atrophy due to OPA1 mutations Ophthalmology 117 (2010) 1538–1546, 1546.e1.

2. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy;Votruba;Arch. Ophthalmol.,1998

3. Multi-system neurological disease is common in patients with OPA1 mutations;Yu-Wai-Man;Brain,2010

4. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance;Pesch;Hum. Mol. Genet.,2001

5. Quantitative evaluation of the mitochondrial DNA depletion syndrome;Dimmock;Clin. Chem.,2010

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. OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts;Human Molecular Genetics;2024-01-27

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