(Q37063532)

18 August 2017

1 reference

title

The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction (English)

1 reference

18 August 2017

1 reference

Knut Eichhorn-Mulligan

series ordinal

1

1 reference

18 August 2017

Dean M Cestari

series ordinal

2

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 January 2008

1 reference

Seminars in Ophthalmology

18 August 2017

1 reference

18 August 2017

23

1 reference

18 August 2017

1

1 reference

18 August 2017

27-37

1 reference

Sequence and organization of the human mitochondrial genome

18 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

A case-control study of Leber's hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Visual evoked potentials in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Maternal inheritance of human mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Leber hereditary optic neuropathy: clinical and molecular genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Magnetic resonance imaging in Leber's optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON). Multifocal ERG in patients with LHON.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Production of transmitochondrial mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Obtaining mice that carry human mitochondrial DNA transmitted to the progeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Ubiquitin tag for sperm mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Mitochondrial DNA mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Cybrid models of mtDNA disease and transmission, from cells to mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Molecular genetic basis of primary inherited optic neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direc

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Mitochondrial inheritance and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

Sporadic Leber hereditary optic neuropathy in Australia and New Zealand

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08820530701745207

10.1080/08820530701745207

21 January 2018

Identifiers

DOI

1 reference

release_4t2qombtmncqfnyvqwafjq5cly

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4t2qombtmncqfnyvqwafjq5cly

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference