(Q44842993)

6 December 2017

title

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? (English)

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6 December 2017

7

Tanja Taivassalo

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6 December 2017

2

Emma L Blakely

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6 December 2017

Robert William Taylor

12

object named as

Robert W Taylor

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6 December 2017

1

Helen Swalwell

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Douglass Matthew Turnbull

6 December 2017

9

object named as

Douglass M Turnbull

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6 December 2017

10

Ronald G Haller

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6 December 2017

5

Matthias Elstner

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6 December 2017

11

Mercy M Davidson

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6 December 2017

Ruth Sutton

3

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6 December 2017

Kasia Tonska

4

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6 December 2017

Langping He

6

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6 December 2017

Dennis K Burns

8

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6 December 2017

publication date

9 April 2008

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European Journal of Human Genetics

6 December 2017

published in

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6 December 2017

volume

16

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6 December 2017

issue

10

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6 December 2017

page(s)

1265-1274

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Mitochondrial DNA mutations in human disease.

6 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Mitochondrial DNA mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.65

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.65

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The 7472insC mtDNA mutation impairs 5' and 3' processing of tRNA(Ser(UCN)).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

MITOMAP: a human mitochondrial genome database--2004 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

Molecular Phenotype of the np 7472 Deafness-Associated Mitochondrial Mutation in Osteosarcoma Cell Cybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

Biochemical assays of respiratory chain complex activity

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

In vivo labeling and analysis of human mitochondrial translation products

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

A tRNA suppressor mutation in human mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.65

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.65

1 reference

Dimensions Publication ID

6 December 2017

1032117469

0 references

1 reference