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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| Hauptverfasser: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2021
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| In: |
Genetics in medicine
Year: 2021, Jahrgang: 23, Heft: 3, Pages: 516-523 |
| ISSN: | 1530-0366 |
| DOI: | 10.1038/s41436-020-01001-z |
| Online-Zugang: | 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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| Verfasserangaben: | 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 |
| Zusammenfassung: | 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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| Beschreibung: | Published: 21 October 2020 Gesehen am 25.05.2021 |
| Beschreibung: | Online Resource |
| ISSN: | 1530-0366 |
| DOI: | 10.1038/s41436-020-01001-z |