(Q46948405)

26 December 2017

title

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome (English)

1 reference

26 December 2017

author

Lucie Hertz-Pannier

3

1 reference

26 December 2017

Agnès Rötig

Agnés Rotig

7

0 references

Nathalie Boddaert

Nathalie Boddaert

5

0 references

Arnold Munnich

9

Arnold Munnich

1 reference

26 December 2017

8

Isabelle Desguerre

1 reference

26 December 2017

Pascale de Lonlay

10

Pascale de Lonlay

1 reference

26 December 2017

Pierre Rustin

6

Pierre Rustin

1 reference

26 December 2017

Irina Giurgea

2

Irina Giurgea

1 reference

26 December 2017

Nadia Bahi-Buisson

4

Nadia Bahi-Buisson

1 reference

26 December 2017

author name string

Christine Barnérias

1

1 reference

26 December 2017

publication date

1 March 2006

1 reference

26 December 2017

Developmental Medicine and Child Neurology

published in

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26 December 2017

volume

48

1 reference

26 December 2017

issue

3

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26 December 2017

page(s)

227-230

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26 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

Inflammatory liver steatosis caused by IL-12 and IL-18

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

Inhibition of mitochondrial function by interferon

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

Improvement of the mitochondrial antioxidant defense status prevents cytokine-induced nuclear factor-kappaB activation in insulin-producing cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

The genetics of Aicardi-Goutières syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Interferons suppress mitochondrial gene transcription by depleting mitochondrial transcription factor A (mtTFA)

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Aicardi-Goutières syndrome: immunophenotyping in relation to interferon-alpha

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Interferon and Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Suppression of mitochondrial mRNA levels and mitochondrial function in cells responding to the anticellular action of interferon

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Aicardi-Goutières syndrome: an expanding phenotype

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

1 reference

https://api.crossref.org/works/10.1017%2FS001216220600048X

7 January 2021

10.1017/S001216220600048X

Identifiers

DOI

1 reference

26 December 2017

1 reference

26 December 2017