(Q42286359)

19 October 2017

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia (English)

1 reference

infantile onset spinocerebellar ataxia

19 October 2017

0 references

spinocerebellar ataxia

1 reference

Jessica N Hartley

1

1 reference

19 October 2017

Frances A Booth

series ordinal

2

1 reference

19 October 2017

Marc R Del Bigio

series ordinal

3

1 reference

19 October 2017

Aizeddin A Mhanni

series ordinal

4

1 reference

19 October 2017

11 August 2012

1 reference

Case reports in pediatrics

19 October 2017

1 reference

19 October 2017

2012

1 reference

19 October 2017

303096

1 reference

Creative Commons Attribution 3.0 Unported

19 October 2017

start time

1 January 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

SIFT: Predicting amino acid changes that affect protein function

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Recessive twinkle mutations cause severe epileptic encephalopathy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3424653

Correction: Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2012%2F303096

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22928142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2012/303096

1 reference

release_u2gpijmf6bgdtkzelvttriraim

19 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/u2gpijmf6bgdtkzelvttriraim

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 October 2017

PubMed publication ID

22928142

1 reference