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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Udgivet i:Mol Genet Metab
Main Authors: 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
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang: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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