Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (Q57588450)

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scientific article published on 01 February 1998

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English	Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene	scientific article published on 01 February 1998

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instance of

scholarly article

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Europe PubMed Central

PubMed publication ID

9501263

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

title

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (English)

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

author

Carlo Dionisi-Vici

series ordinal

1

1 reference

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Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

Enrico Bertini

series ordinal

6

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

author name string

S Seneca

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2

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

M Zeviani

series ordinal

3

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

G Fariello

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

M Rimoldi

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

L De Meirleir

series ordinal

7

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

publication date

1 February 1998

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

published in

Journal of Inherited Metabolic Disease

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stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

volume

21

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

issue

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

page(s)

2-8

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Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

cites work

Sequence and organization of the human mitochondrial genome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in Leigh syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral striatal lesions in childhood.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subacute necrotizing encephalomyelopathy in an infant

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9501263

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1023/A:1005397227996

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

Dimensions Publication ID

1046691263

0 references

PubMed publication ID

9501263

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9501263

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9501263%20AND%20SRC:MED&resulttype=core&format=json

retrieved

10 November 2019

 

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