A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. (Q34510948)

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23 February 2020

title

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions (English)

1 reference

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23 February 2020

main subject

cerebellar hypoplasia

1 reference

4

1 reference

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23 February 2020

Daniele Ghezzi

7

1 reference

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23 February 2020

author name string

Laura Melchionda

1

1 reference

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23 February 2020

Nadirah S Damseh

2

1 reference

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23 February 2020

Bassam Y Abu Libdeh

3

1 reference

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23 February 2020

Orly Elpeleg

5

1 reference

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23 February 2020

Alice Zanolini

6

1 reference

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23 February 2020

publication date

14 November 2014

1 reference

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23 February 2020

published in

Frontiers in Genetics

1 reference

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23 February 2020

volume

5

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23 February 2020

page(s)

397

1 reference

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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Impact of the mitochondrial genetic background in complex III deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

Clinical and molecular findings in children with complex I deficiency

7 July 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00397

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00397

Interaction between mitochondrial precursor proteins and cytosolic soluble domains of mitochondrial import receptors, Tom20 and Tom70, measured by surface plasmon resonance.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00397

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00397

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

21 January 2018

2 references

https://api.crossref.org/works/10.3389%2FFGENE.2014.00397

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231952

27 October 2018

Identifiers

DOI

10.3389/FGENE.2014.00397

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25452764%20AND%20SRC:MED&resulttype=core&format=json

release_fuobptf3dvdh7nn7qzqb6irjae

23 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fuobptf3dvdh7nn7qzqb6irjae

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

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23 February 2020

PubMed publication ID

25452764

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25452764%20AND%20SRC:MED&resulttype=core&format=json