Development of a neurologic severity scale for Aicardi Goutières Syndrome

BACKGROUND AND PURPOSE: Aicardi Goutières Syndrome (AGS) is a severe, autoinflammatory leukodystrophy characterized by global neurologic dysfunction. Our goal was to create an easy-to-apply scale relevant to the unique developmental challenges associated with AGS. METHODS: All individuals were recru...

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Veröffentlicht in:Mol Genet Metab
Hauptverfasser: Adang, Laura A., Gavazzi, Francesco, Jawad, Abbas F., Cusack, Stacy V., Kopin, Kimberly, Peer, Kyle, Besnier, Constance, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli, Jessica, Shults, Justine, Vanderver, Adeline
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7366613/
https://ncbi.nlm.nih.gov/pubmed/32279991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.03.008
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