Results 1 -
10
of
13
for
Aicardi Goutieres syndrome 1
- ... Registry: Aicardi-Goutieres syndrome 7 Genetic Testing Registry: Aicardi-Goutieres syndrome 1 Genetic Testing Registry: Aicardi-Goutieres syndrome 2 Genetic ...
- ... back of the eye (the retina).As in Aicardi-Goutières syndrome, absence or impaired function of the 3-prime repair exonuclease 1 enzyme may cause immune system dysfunction that damages ...
- ... Shaban NM, Hollis T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med (Berl). 2009 Jan;87(1):25-30. doi: 10.1007/s00109-008-0422- ...
- ... Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014. ...
- ... problems that differ from those that occur in Aicardi-Goutières syndrome, and without the other signs and symptoms that occur in that disorder. 136 kDa double-stranded RNA-binding protein ADAR1 adenosine deaminase acting on RNA 1-A AGS6 DRADA DSH DSRAD dsRNA adenosine deaminase ...
- ... systems that lead to the characteristic features of Aicardi-Goutières syndrome. More About This Health Condition AGS5 DCIP dendritic cell-derived IFNG-induced protein HDDC1 Mg11 monocyte protein 5 MOP-5 SAM domain and HD domain 1 SAM domain and HD domain-containing protein 1 ...
- ... small fiber neuropathy. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub ... familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. ...
- Leukodystrophies (National Library of Medicine)What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
- ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
- ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...