Results 1-7 of about 8|
  1. ... suspected syndrome, or whole exome or genome sequencing. Aicardi-Goutieres syndrome (AGS) History Exam 1st investigation Other investigations subacute ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  2. ... syndrome of dystonia with deafness and hypomyelination. [ 47] • Aicardi-Goutières syndrome (AGS) is a type I interferonopathy (monogenic disorder ... including infantile epileptic- dyskinetic encephalopathy Leukodystrophies/ hypomyelinating ... inherited neurodegenerative disorders with dystonia Paroxysmal ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... syndrome of dystonia with deafness and hypomyelination. [ 47] • Aicardi-Goutières syndrome (AGS) is a type I interferonopathy (monogenic disorder ... including infantile epileptic- dyskinetic encephalopathy Leukodystrophies/ hypomyelinating ... inherited neurodegenerative disorders with dystonia Paroxysmal ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... 2002;6(5):243-7. Abstract Goutieres F. Aicardi-Goutieres syndrome. Brain Dev. 2005 Apr;27(3):201-6. ... TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47(6):355- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... nlm.nih.gov/pubmed/24011989?tool=bestpractice.com Aicardi-Goutières syndrome (AGS) is a type I interferonopathy (monogenic disorder ... TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47(6):355- ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... including infantile epileptic-dyskinetic encephalopathy Leukodystrophies/hypomyelinating disorders Aicardi-Goutieres syndrome (AGS) Other inherited neurodegenerative disorders with dystonia Paroxysmal ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  7. ... including infantile epileptic-dyskinetic encephalopathy Leukodystrophies/hypomyelinating disorders Aicardi-Goutieres syndrome (AGS) Other inherited neurodegenerative disorders with dystonia Paroxysmal ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk