selected publications
- Disease-linked mutations in Munc18-1 deplete synaptic Doc2. Brain : a journal of neurology. 2024 Academic Article GET IT
- Targeted stabilization of Munc18-1 function via pharmacological chaperones. EMBO molecular medicine. 2020 Academic Article GET IT
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STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Journal of neurochemistry.
2020
Information Resource
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Times cited: 49 -
Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.
Nature communications.
2018
Academic Article
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Times cited: 50 -
Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
Science translational medicine.
2017
Academic Article
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Times cited: 15 - MiR-223 regulates the differentiation of immature neurons. Molecular and cellular therapies. 2014 Academic Article GET IT