(Q40356491)

19 September 2017

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. (English)

1 reference

19 September 2017

Russell P Saneto

1

1 reference

PMC publication ID

2918679

19 September 2017

Keshav K Singh

series ordinal

2

1 reference

19 September 2017

27 May 2010

1 reference

19 September 2017

1 reference

19 September 2017

10

1 reference

19 September 2017

5

1 reference

19 September 2017

567-572

1 reference

Leigh and Leigh-like syndrome in children and adults

19 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Neuroimaging of mitochondrial disease.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Two new mutations in the MTATP6 gene associated with Leigh syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Subacute necrotizing encephalomyelopathy in an infant

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918679

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

20 August 2018

1 reference

12 December 2020

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

12 December 2020

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

12 December 2020

Yield of mtDNA mutation analysis in 2,000 patients

1 reference

12 December 2020

Mitochondrial dysfunction in skeletal muscle of children with cardiomyopathy

1 reference

12 December 2020

Homoplasmy, heteroplasmy, and mitochondrial dystonia

1 reference

12 December 2020

10.1016/J.MITO.2010.05.006

Identifiers

DOI

1 reference

19 September 2017

1 reference

PMC publication ID

2918679

19 September 2017

PubMed publication ID

20546952

1 reference

PMC publication ID

2918679