Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

PURPOSE: TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials. METHODS: Qu...

Descripción completa

Detalles Bibliográficos
Autores principales: Schröter, Julian, Döring, Jan H., Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935713/
https://www.ncbi.nlm.nih.gov/pubmed/33082561
http://dx.doi.org/10.1038/s41436-020-01001-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935713/
https://www.ncbi.nlm.nih.gov/pubmed/33082561
http://dx.doi.org/10.1038/s41436-020-01001-z

Ejemplares similares