(Q57251783)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22562699%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22562699%20AND%20SRC:MED&resulttype=core&format=json

fatal multiple mitochondrial dysfunctions syndrome

31 January 2020

main subject

0 references

1 reference

1 reference

1 reference

13

1 reference

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31 January 2020

Thomas Meitinger

15

1 reference

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31 January 2020

Holger Prokisch

16

1 reference

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31 January 2020

10

Ilka Wittig

1 reference

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31 January 2020

1

Tobias B Haack

1 reference

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31 January 2020

14

Tim M Strom

1 reference

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31 January 2020

12

Peter Freisinger

1 reference

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31 January 2020

11

Wolfgang Sperl

1 reference

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31 January 2020

6

Valentina Strecker

1 reference

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31 January 2020

3

Birgit Haberberger

1 reference

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31 January 2020

5

Jessica Schum

1 reference

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31 January 2020

2

Boris Rolinski

1 reference

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31 January 2020

author name string

Franz Zimmermann

4

1 reference

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31 January 2020

Elisabeth Graf

7

1 reference

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31 January 2020

Uwe Athing

8

1 reference

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31 January 2020

Thomas Hoppen

9

1 reference

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31 January 2020

publication date

5 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22562699%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

31 January 2020

published in

1 reference

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31 January 2020

volume

36

1 reference

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31 January 2020

issue

1

1 reference

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31 January 2020

page(s)

55-62

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-012-9489-7

31 January 2020

exact match

0 references

cites work

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

The mitochondrial proteome database: MitoP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Histidine 103 in Fra2 is an iron-sulfur cluster ligand in the [2Fe-2S] Fra2-Grx3 complex and is required for in vivo iron signaling in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Clinical spectrum and diagnosis of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9489-7

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22562699

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22562699

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22562699

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-012-9489-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22562699%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference