(Q57588450)

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

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)

1 reference

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

10 November 2019

1

1 reference

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

10 November 2019

Enrico Bertini

6

1 reference

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

10 November 2019

author name string

S Seneca

2

1 reference

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

10 November 2019

M Zeviani

3

1 reference

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

10 November 2019

G Fariello

4

1 reference

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

10 November 2019

M Rimoldi

5

1 reference

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

10 November 2019

L De Meirleir

7

1 reference

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

10 November 2019

publication date

1 February 1998

1 reference

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

Journal of Inherited Metabolic Disease

10 November 2019

published in

1 reference

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

10 November 2019

volume

21

1 reference

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

10 November 2019

issue

1

1 reference

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

10 November 2019

page(s)

2-8

1 reference

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

https://scigraph.springernature.com/pub.10.1023/a:1005397227996

10 November 2019

exact match

0 references

cites work

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in Leigh syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Bilateral striatal lesions in childhood.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Subacute necrotizing encephalomyelopathy in an infant

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005397227996

1 reference

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

Dimensions Publication ID

10 November 2019

0 references

1 reference