Maternally inherited mitochondrial DNA disease in consanguineous families (Q35591692)

9 August 2017

title

Maternally inherited mitochondrial DNA disease in consanguineous families (English)

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9 August 2017

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Robert William Taylor

series ordinal

8

object named as

Robert W Taylor

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Douglass Matthew Turnbull

9 August 2017

series ordinal

6

object named as

Douglass M Turnbull

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9 August 2017

1

Charlotte L Alston

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9 August 2017

3

Andrew A Morris

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9 August 2017

4

Imelda Hughes

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9 August 2017

7

Robert McFarland

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9 August 2017

Christian G E L de Goede

series ordinal

5

object named as

Christian de Goede

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9 August 2017

Langping He

2

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9 August 2017

publication date

29 June 2011

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European Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

19

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9 August 2017

issue

12

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9 August 2017

page(s)

1226-1229

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.124

9 August 2017

exact match

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cites work

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Defective mitochondrial mRNA maturation is associated with spastic ataxia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

A neurological perspective on mitochondrial disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Prevalence of mitochondrial DNA disease in adults

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Biochemical assays of respiratory chain complex activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Mitochondrial DNA mutations in human disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

27 July 2018

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Sequence and organization of the human mitochondrial genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230363

26 September 2018

Identifiers

DOI

10.1038/EJHG.2011.124

1 reference

Dimensions Publication ID

9 August 2017

1021628021

0 references

Fatcat ID

release_4kc5j27eszgk5ogeucffgjkzna

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4kc5j27eszgk5ogeucffgjkzna

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3230363

1 reference

9 August 2017

1 reference