Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). (Q53084516)

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3 March 2020

title

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

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3 March 2020

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2

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Davide Tonduti

4

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3 March 2020

Umberto Balottin

5

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3 March 2020

Elisa Fazzi

6

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Simona Orcesi

7

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1

Roberta La Piana

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author name string

Ivana Olivieri

3

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language of work or name

English

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publication date

20 December 2013

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American Journal of Medical Genetics

3 March 2020

published in

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volume

164A

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issue

3

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3 March 2020

page(s)

815-819

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

3 March 2020

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Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

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Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

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Infantile bilateral striatal necrosis following measles

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

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

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

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

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Infantile bilateral striatal necrosis. Clinicopathological classification.

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Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection

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Neurotoxicity and dysfunction of dopaminergic systems associated with AIDS dementia

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Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

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

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Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

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Long-term findings on brain magnetic resonance imaging in acute encephalopathy with bilateral striatal necrosis associated with measles.

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