(Q71376773)

English

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation

scientific article published on 01 January 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Francoise Degoul

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

author name string

M Diry

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

D Rodriguez

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

O Robain

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

D Francois

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

G Ponsot

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

C Marsac

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

I Desguerre

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

18

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

682-688

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02436757

0 references

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited Leigh syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

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/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

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/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

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/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750605

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02436757

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750605%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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