(Q35196293)

7 August 2017

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology (English)

1 reference

Leber hereditary optic neuropathy

7 August 2017

1 reference

D Mackey

1

1 reference

PubMed ID

1463007

7 August 2017

N Howell

series ordinal

2

1 reference

PubMed ID

1463007

7 August 2017

language of work or name

English

0 references

publication date

1 December 1992

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

51

1 reference

7 August 2017

6

1 reference

7 August 2017

1218-1228

1 reference

Sequence and organization of the human mitochondrial genome

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Ocular Fundus in Acute Leber Optic Neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Evolutionary conservation of protein regions in the protonmotive cytochrome b and their possible roles in redox catalysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

The sequence of human mtDNA: the question of errors versus polymorphisms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Cytochrome b mutations in Leber hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682921

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

26 September 2018

1 reference

12 December 2020

Diagnosis and prognosis of Leber's disease: incidence of spontaneous total recuperation

1 reference

12 December 2020

Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies

1 reference

12 December 2020

Bilateral optic neuropathy with remission in young men. Variation on a theme by Leber?

1 reference

12 December 2020

Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members

1 reference

12 December 2020

Identifiers

PMCID

1682921

1 reference

7 August 2017

1 reference

PubMed ID

1463007