(Q36316862)

English

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

mitochondrial disease

1 reference

based on heuristic

inferred from title

author name string

G Uziel

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

I Moroni

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

E Lamantea

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

G M Fratta

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

E Ciceri

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

F Carrara

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

M Zeviani

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

language of work or name

0 references

publication date

1 July 1997

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

63

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

16-22

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

The mechanism of ATP synthase: a reassessment of the functions of the b and a subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

Prenatal diagnosis of mitochondrial DNA8993 T----G disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

30 September 2017

The aleu207-->arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

29 June 2018

A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

29 June 2018

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

29 June 2018

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

22 September 2018

Maternally inherited Leigh syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169628

22 September 2018

Hydrogen ion-ATP synthase from rat liver mitochondria. A simple, rapid purification method of the functional complex and its characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/9221962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9221962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9221962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9221962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

1 reference

https://pubmed.ncbi.nlm.nih.gov/9221962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reference charts for respiratory chain activities in human tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/9221962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.63.1.16

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

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