Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome (Q36515502)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26581299%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome (English)

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29 February 2020

2

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29 February 2020

Federico Roncarolo

3

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29 February 2020

Adeline Vanderver

4

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29 February 2020

Davide Tonduti

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29 February 2020

Guy Helman

7

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29 February 2020

Umberto Balottin

8

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29 February 2020

Elisa Fazzi

9

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29 February 2020

Yanick J. Crow

10

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29 February 2020

Simona Orcesi

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1

Roberta La Piana

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29 February 2020

author name string

Ivana Olivieri

5

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29 February 2020

John Livingston

11

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29 February 2020

language of work or name

English

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publication date

18 November 2015

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29 February 2020

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29 February 2020

volume

86

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29 February 2020

issue

1

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29 February 2020

page(s)

28-35

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Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

29 February 2020

cites work

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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

30 September 2017

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Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes

30 September 2017

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

30 September 2017

1 reference

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Therapies in Aicardi-Goutières syndrome.

30 September 2017

1 reference

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Cockayne syndrome: the expanding clinical and mutational spectrum

30 September 2017

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Recognizable phenotypes associated with intracranial calcification

30 September 2017

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

30 September 2017

1 reference

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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

30 September 2017

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Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

30 September 2017

1 reference

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

30 September 2017

1 reference

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Aicardi-Goutieres syndrome.

30 September 2017

1 reference

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Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

30 September 2017

1 reference

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

30 September 2017

1 reference

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Clinical and molecular phenotype of Aicardi-Goutieres syndrome

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

30 September 2017

1 reference

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

30 September 2017

1 reference

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Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

30 September 2017

1 reference

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Invited article: an MRI-based approach to the diagnosis of white matter disorders

28 June 2018

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Aicardi-Goutières syndrome: description of a late onset case

28 June 2018

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

28 June 2018

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

28 June 2018

1 reference

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Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.

21 September 2018

1 reference

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Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

21 September 2018

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Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

21 September 2018

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A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

21 September 2018

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Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

21 September 2018

1 reference

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Neuroimaging in Cockayne syndrome.

21 September 2018

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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

21 September 2018

1 reference

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

21 September 2018

1 reference

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Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

21 September 2018

1 reference

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10.1212/WNL.0000000000002228

4 December 2018

Identifiers

DOI

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29 February 2020

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