Aicardi-Goutieres syndrome. (Q34917298)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19129251%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

review article

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title

Aicardi-Goutieres syndrome (English)

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19 January 2020

1

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19 January 2020

Elisa Fazzi

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19129251%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

R La Piana

series ordinal

2

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19 January 2020

publication date

7 January 2009

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19 January 2020

published in

British Medical Bulletin

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19 January 2020

volume

89

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19 January 2020

page(s)

183-201

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A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Encephalopathy of Infancy with Intracerebral Calcification and Chronic Spinal Fluid Lymphocytosis - Another Case of the Aicardi-Goutières Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Prenatal diagnosis of Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

The Aircardi-Goutières syndrome: variable clinical expression in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome: an expanding phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Regression of white matter hypodensities with age in Aicardi-Goutierés syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Lack of progression of brain atrophy in Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Brain lactic alkalosis in Aicardi-Goutières syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Case of Aicardi-Goutières syndrome with long-lasting increase of cerebrospinal interferon-alpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome (AGS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Nucleic acid-mediated inflammatory diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

New roles for the major human 3'-5' exonuclease TREX1 in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Trex1 prevents cell-intrinsic initiation of autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Familial systemic lupus erythematosus and congenital infection-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Genetic syndromes mimic congenital infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBMB%2FLDN049

21 January 2018

Identifiers

DOI

10.1093/BMB/LDN049

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19129251%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference