NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. (Q50076536)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

mitochondrial complex I deficiency

15 March 2020

main subject

1 reference

based on heuristic

inferred from title

author

Dorota Piekutowska-Abramczuk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Eliska Holzerova

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Elżbieta Jurkiewicz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Andreas Koller

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Agnieszka Pollak

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Piotr Gasperowicz

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Joanna Trubicka

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Elżbieta Ciara

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

Katarzyna Iwanicka-Pronicka

15 March 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Dariusz Rokicki

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Holger Prokisch

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Ewa Pronicka

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Rafał Płoski

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

16

Sylvain Hanein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

author name string

Zahra Assouline

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Lavinija Mataković

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

René G Feichtinger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Piotr Stawiński

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Mirjana Gusic

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Saskia B Wortmann

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Wolfgang Sperl

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Giulia Barcia

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Johannes A Mayr

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Agnès Rötig

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

language of work or name

English

0 references

publication date

8 February 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

15 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

page(s)

460-467

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

Genetic diagnosis of Mendelian disorders via RNA sequencing

15 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=5985356

Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Structure of Mammalian Respiratory Supercomplex I1III2IV1.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

The architecture of the mammalian respirasome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

The architecture of respiratory supercomplexes

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Structure of mammalian respiratory complex I

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Mitochondrial complex I-linked disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Spectrum of combined respiratory chain defects

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Structural biology. Mechanistic insight from the crystal structure of mitochondrial complex I

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Architecture of mammalian respiratory complex I.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

26 August 2018

Mitochondrial complex I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Complex I deficiency: clinical features, biochemistry and molecular genetics

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Assembly of mitochondrial complex I and defects in disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Energy converting NADH:quinone oxidoreductase (complex I).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5985356

Biochemical and molecular investigations in respiratory chain deficiencies

26 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29429571

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2018.01.008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29429571%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

PubMed publication ID

29429571

1 reference