Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease (Q36532577)

14 August 2017

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease (English)

1 reference

14 August 2017

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mitochondrial disease

1 reference

Yi Ng

3

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Charlotte L Alston

Charlotte L Alston

6

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Rita Horvath

Rita Horvath

8

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Patrick Yu-Wai-Man

9

Patrick Yu-Wai-Man

1 reference

14 August 2017

10

Patrick F Chinnery

1 reference

14 August 2017

5

Emma L Blakely

1 reference

14 August 2017

1

Gráinne S Gorman

1 reference

14 August 2017

Robert William Taylor

11

Robert W Taylor

1 reference

Douglass Matthew Turnbull

14 August 2017

12

Douglass M Turnbull

1 reference

14 August 2017

2

Andrew M Schaefer

1 reference

14 August 2017

7

Catherine Feeney

1 reference

14 August 2017

13

Robert McFarland

1 reference

14 August 2017

Nicholas Gomez

4

1 reference

14 August 2017

28 March 2015

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14 August 2017

1 reference

14 August 2017

77

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14 August 2017

5

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14 August 2017

753-759

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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Disease progression in patients with single, large-scale mitochondrial DNA deletions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

The clinical maze of mitochondrial neurology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

A neurological perspective on mitochondrial disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Prevalence of mitochondrial DNA disease in adults

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737121

Risk of developing a mitochondrial DNA deletion disorder

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24362

21 January 2018

Identifiers

DOI

10.1002/ANA.24362

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

25652200

1 reference