(Q37478828)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

mitochondrial encephalomyopathy

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Beatriz Garcia Diaz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

7

Vamsi K Mootha

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Maria Alice Donati

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Michele Sacchini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Claudio Bruno

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sarah Calvo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Salvatore Dimauro

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

1 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

1177-1179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

4 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

A mitochondrial protein compendium elucidates complex I disease biology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Respiratory complex III is required to maintain complex I in mammalian mitochondria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Mitochondrial complex I deficiency of nuclear origin I. Structural genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891824

10.1001/JAMANEUROL.2013.3197

3 December 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23836383%20AND%20SRC:MED&resulttype=core&format=json