(Q24309170)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

main subject

Transmembrane protein 70

1 reference

mitochondrial proton-transporting ATP synthase complex assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Johannes A Mayr

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Markéta Tesařová

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Robert Ivánek

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Marek Vrbacký

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hana Hartmannová

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Lenka Noskova

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Tomáš Honzík

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Zdenek Drahota

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Martin Magner

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Jiri Zeman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Alena Cízková

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Vendula Havlícková

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Jan Paul

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Andreas W Kuss

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hana Hansíková

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Vilma Kaplanová

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Katerina Hejzlarová

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Wolfgang Sperl

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Josef Houstek

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Stanislav Kmoch

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

26 October 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

1288-1290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

The F1Fo-ATPase Complex from Bovine Heart Mitochondria: The Molar Ratio of the Subunits in the Stalk Region Linking the F1and FoDomains

25 December 2019

cites work

1 reference

7 January 2021

Function, structure, and biogenesis of mitochondrial ATP synthase

1 reference

7 January 2021

Assembly factors of F1FO-ATP synthase across genomes.

1 reference

7 January 2021

Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria

1 reference

7 January 2021

The metalloprotease encoded by ATP23 has a dual function in processing and assembly of subunit 6 of mitochondrial ATPase

1 reference

7 January 2021

Mitochondrial diseases and genetic defects of ATP synthase.

1 reference

7 January 2021

Pathogenesis of primary defects in mitochondrial ATP synthesis.

1 reference

7 January 2021

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

1 reference

7 January 2021

A novel deficiency of mitochondrial ATPase of nuclear origin

1 reference

7 January 2021

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

1 reference

7 January 2021

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

1 reference

7 January 2021

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase

1 reference

7 January 2021

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

1 reference

7 January 2021

Systematic identification of human mitochondrial disease genes through integrative genomics

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG.246

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18953340%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

25 December 2019

1019578664

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017