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  1. ... suspected syndrome, or whole exome or genome sequencing. Aicardi-Goutieres syndrome (AGS) History Exam 1st investigation Other ... suspected syndrome, or whole exome or genome sequencing. Aicardi-Goutieres syndrome (AGS) History Exam 1st investigation Other ...
    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 ( ... including infantile epileptic- dyskinetic ... syndrome ( AGS) Other inherited neurodegenerative disorders with ...
    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 ( ... including infantile epileptic- dyskinetic ... syndrome ( AGS) Other inherited neurodegenerative disorders with ...
    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): ... Obese JA. General concepts. In: Fernández-Alvarez E, Aicardi J, eds. Movement disorders in children. London: Mac ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... Obese JA. General concepts. In: Fernández-Alvarez E, Aicardi J, eds. Movement disorders in children. London: Mac ... including infantile epileptic-dyskinetic encephalopathy Leukodystrophies/hypomyelinating disorders Aicardi-Goutieres syndrome (AGS) Other inherited neurodegenerative disorders with ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  6. ... Obese JA. General concepts. In: Fernández-Alvarez E, Aicardi J, eds. Movement disorders in children. London: Mac ... including infantile epileptic-dyskinetic encephalopathy Leukodystrophies/hypomyelinating disorders Aicardi-Goutieres syndrome (AGS) Other inherited neurodegenerative disorders with ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  7. ... nlm.nih.gov/pubmed/24011989?tool=bestpractice.com Aicardi-Goutières syndrome (AGS) is a type I interferonopathy ( ... TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47( ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... neuronal migration disorder such as lissencephaly. X-linked Aicardi syndrome is a rare condition, but frequently presents ... Abstract 16. Rosser TL, Acosta MT, Packer RJ. Aicardi syndrome: spectrum of disease and long-term prognosis ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... neuronal migration disorder such as lissencephaly. X-linked Aicardi syndrome is a rare condition, but frequently presents ... spasms. [16] Rosser TL, Acosta MT, Packer RJ. Aicardi syndrome: spectrum of disease and long-term prognosis ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... Obese JA. General concepts. In: Fernández-Alvarez E, Aicardi J, eds. Movement disorders in children. London: Mac ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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