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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Publicat a:Mol Genet Metab
Autors principals: 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
Idioma:Inglês
Publicat: 2020
Matèries:
Article
Accés en línia: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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