Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) (Q24299174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

Succinate dehydrogenase complex flavoprotein subunit A

10 January 2020

main subject

1 reference

nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Rita Horvath

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Holger Prokisch

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Hanns Lochmüller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

author name string

A Abicht

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

E Holinski-Feder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

A Laner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

K Gempel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

T Klopstock

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

M Jaksch

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

1 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

10 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

74-76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

10 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2117401

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2117401

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2117401

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2117401

Inborn errors of complex II--unusual human mitochondrial diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2117401

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2117401

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

30 May 2018

1 reference

12 December 2020

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

12 December 2020

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

1 reference

12 December 2020

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2005.067041

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16361598%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

16361598

1 reference