(Q42559012)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

N Howell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

M Xu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

S Halvorson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

I Bodis-Wollner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

J Sherman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

language of work or name

English

0 references

publication date

1 July 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

203-206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

Leber's hereditary optic neuropathy. New genetic considerations

23 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

Variable genotype of Leber's hereditary optic neuropathy patients.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

MELAS: clinical features, biochemistry, and molecular genetics

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

Cytochrome b mutations in Leber hereditary optic neuropathy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918230

The clinical findings in Leber's hereditary optic neuroretinopathy. Leber's disease

16 August 2018

1 reference

12 December 2020

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

1 reference

12 December 2020

Distended optic nerve sheaths in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial DNA mutation in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Noninvasive diagnosis of the MELAS syndrome from blood DNA

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8023847%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

PubMed publication ID

8023847

1 reference