(Q36594335)

15 August 2017

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy (English)

1 reference

hereditary optic neuropathy

15 August 2017

1 reference

1 reference

inferred from title

Kjer's optic neuropathy

1 reference

Yabin Chen

1

1 reference

15 August 2017

Xiaoyun Jia

2

1 reference

15 August 2017

Panfeng Wang

3

1 reference

15 August 2017

Xueshan Xiao

4

1 reference

15 August 2017

Shiqiang Li

5

1 reference

15 August 2017

Xiangming Guo

6

1 reference

15 August 2017

Qingjiong Zhang

7

1 reference

15 August 2017

6 February 2013

1 reference

15 August 2017

1 reference

15 August 2017

19

1 reference

15 August 2017

292-302

1 reference

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

The neuro-ophthalmology of mitochondrial disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

A method and server for predicting damaging missense mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

OPA1-associated disorders: phenotypes and pathophysiology.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Inherited mitochondrial optic neuropathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Molecular genetic basis of primary inherited optic neuropathies.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Finding and interpreting genetic variations that are important to ophthalmologists

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Mitochondrial dysfunction as a cause of optic neuropathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

The epidemiology of Leber hereditary optic neuropathy in the North East of England

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Hereditary optic atrophies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

eOPA1: an online database for OPA1 mutations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Autosomal dominant optic atrophy. A spectrum of disability.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

The natural history of OPA1-related autosomal dominant optic atrophy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: comparison with normal tension glaucoma

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566897

Novel mutations of the OPA1 gene in Chinese dominant optic atrophy

21 October 2018

1 reference

12 December 2020

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

1 reference

12 December 2020

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

1 reference

12 December 2020

Hereditary optic neuropathies

1 reference

12 December 2020

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy

1 reference

12 December 2020

No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations

1 reference

12 December 2020

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

1 reference

12 December 2020

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

12 December 2020

Identifiers

1 reference

15 August 2017

PubMed publication ID

23401657

1 reference