Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

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im Juni 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 04 June 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Autosomal-dominant early-onset ...... due to IFIH1 gain-of-function

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Alain Maertens de Noordhout

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Carolina Uggenti

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Christelle Cabrol

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Elise Boucher-Brischoux

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Emmanuel Scalais

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Fernand Pauly

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François-Guillaume Debray

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Ji Woo Park

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John H Livingston

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Lien van Eyk

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P2860

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

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

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

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

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

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

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Aicardi-Goutières syndrome and the type I interferonopathies.

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

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1076-1080

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scholarly article

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10.1002/HUMU.23554

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English

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2018-06-04T00:00:00Z

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29782060

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6043383

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