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AICARDI-GOUTIERES SYNDROME 5 (disorder)

Known as: AGS5, AICARDI-GOUTIERES SYNDROME 5, Aicardi-Goutieres syndrome, autosomal dominant 
National Institutes of Health

Related topics

Related topics

15 relations

Broader (2)

Autoimmune Diseases of the Nervous SystemCongenital neurologic anomalies
Autosomal recessive inheritanceChilblainsDevelopmental delay (disorder)Dry skin

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures
ABSTRACT Adenosine (A) to inosine (I) RNA editing is important for life in metazoan organisms. Dysregulation or mutations that… 
Review
2016
Review
2016
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond
Abstract The Aicardi–Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the… 
2015
2015
Characterization of samhd1 Morphant Zebrafish Recapitulates Features of the Human Type I Interferonopathy Aicardi-Goutières Syndrome
In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of Aicardi-Goutières syndrome (AGS), an… 
2013
2013
Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.
2010
2010
A new study on the bacteria of Agrotis segetum Schiff. (Lepidoptera: Noctuidae) and their insecticidal activities
Agrotis segetum Schiff. (Lepidoptera: Noctuidae) is one of the most serious pests of nearly all vegetables in Turkey. In this… 
Review
2010
Review
2010
Cerebral folate deficiency
Cerebral folate deficiency (CFD) is defined as any neurological syndrome associated with a low cerebrospinal fluid (CSF… 
2007
2007
A Triple Pendulum Robotic Model and a Set Of Simple Parametric Functions for the Analysis of the Golf Swing
The paper deals with the analysis the golf swing using a triple pendulum model and a simple class of feasible trajectories for… 
2007
2007
Symmetries of quadratic form classes and of quadratic surd continued fractions. Part II: Classification of the periods’ palindromes
According to a theorem by Lagrange, the continued fractions of quadratic surds are periodic. Their periods may have different… 
1974
1974
Taxometric Classification of Myoclonic Epilepsies
Similarities within 220 cases of epileptic myoclonia were computed by the overlapping cluster‐analysis method (Jardine and Sibson… 
1972
1972
The Aicardi Syndrome
A case of Aicardi's syndrome is described. The main features are infantile spasms, pathognomonic chorioretinopathy, evidence of… 
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