(Q35150496)

6 August 2017

title

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship (English)

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6 August 2017

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Ronen Spiegel

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author name string

Hanna Mandel

2

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Ann Saada

3

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Issy Lerer

4

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Ayala Burger

5

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Avraham Shaag

6

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6 August 2017

Stavit A Shalev

7

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6 August 2017

Haneen Jabaly-Habib

8

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6 August 2017

Dorit Goldsher

9

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6 August 2017

John M Gomori

10

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6 August 2017

Alex Lossos

11

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Orly Elpeleg

12

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6 August 2017

Vardiella Meiner

13

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6 August 2017

publication date

15 January 2014

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European Journal of Human Genetics

6 August 2017

published in

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6 August 2017

volume

22

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6 August 2017

issue

8

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6 August 2017

page(s)

1019-1025

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.284

6 August 2017

exact match

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cites work

Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

Evolution and diversification of the organellar release factor family.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

Structural Basis for the Rescue of Stalled Ribosomes: Structure of YaeJ Bound to the Ribosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

Terminating human mitochondrial protein synthesis: a shift in our thinking.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

Class-1 translation termination factors: invariant GGQ minidomain is essential for release activity and ribosome binding but not for stop codon recognition

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350599

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

13 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.284

21 January 2018

Identifiers

DOI

10.1038/EJHG.2013.284

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Dimensions Publication ID

6 August 2017

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6 August 2017

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