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

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.

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Bibliographic Details
Main Authors: Schröter, Julian (Author) , Driedger, Jan Henje (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Ries, Markus (Author) , Syrbe, Steffen (Author)
Format: Article (Journal)
Language:English
Published: 2021
In: Genetics in medicine
Year: 2021, Volume: 23, Issue: 3, Pages: 516-523
ISSN:1530-0366
DOI:10.1038/s41436-020-01001-z
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41436-020-01001-z
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41436-020-01001-z
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Author Notes:Julian Schröter, MD, Jan H. Döring, MD, Sven F. Garbade, PhD, Georg F. Hoffmann, MD, Stefan Kölker, MD, Markus Ries, MD, PhD and Steffen Syrbe, MD
Description
Summary: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.
Item Description:Published: 21 October 2020
Gesehen am 25.05.2021
Physical Description:Online Resource
ISSN:1530-0366
DOI:10.1038/s41436-020-01001-z

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