(Q34705253)

4 August 2017

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions (English)

1 reference

4 August 2017

1 reference

Esther Leshinsky-Silver

1

object named as

Esther Leshinsky-Silver

0 references

Tally Lerman-Sagie

11

object named as

Tally Lerman-Sagie

1 reference

4 August 2017

2

Gustavo Malinger

1 reference

4 August 2017

10

Dorit Lev

1 reference

4 August 2017

Liat Ben-Sira

3

1 reference

4 August 2017

Dvora Kidron

4

1 reference

4 August 2017

Sarit Cohen

5

1 reference

4 August 2017

Shani Inbar

6

1 reference

4 August 2017

Tali Bezaleli

7

1 reference

4 August 2017

Arie Levine

8

1 reference

4 August 2017

Chana Vinkler

9

1 reference

4 August 2017

24 November 2010

1 reference

European Journal of Human Genetics

4 August 2017

1 reference

4 August 2017

19

1 reference

4 August 2017

3

1 reference

4 August 2017

287-292

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.213

4 August 2017

0 references

cites work

Primary disorders of metabolism and disturbed fetal brain development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Mitofusin 2 inhibits mitochondrial antiviral signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

The role of mitochondria in cellular defense against microbial infection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Ribonuclease H: the enzymes in eukaryotes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Aicardi-Goutieres 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=3062001

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

The in-depth evaluation of suspected mitochondrial disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3062001

Brain MRI and proton MRS findings in infants and children with respiratory chain defects

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Clinical features and neuroradiological findings of mitochondrial pathology in six neonates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Mitochondrial aberrations in mucolipidosis Type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Brain lactic alkalosis in Aicardi-Goutières syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Prenatal diagnosis of Aicardi-Goutières syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

Biochemical and molecular investigations in respiratory chain deficiencies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21102625

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.213

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.213

1 reference

4 August 2017

1 reference

4 August 2017

1 reference