Related Experiment Video

Updated: Sep 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant

Maximilian Johannes Löw1, Felix Bernsdorff1, Christiane Weinrich1

  • 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|September 5, 2026
PubMed
Abstract

Keywords:
Pierpont syndromeTBL1XR1generalized dystonia

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