10.6002/ect.mesot2023.o20
Author:
Publisher
Baskent University
Reference45 articles.
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2. Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome: VAMP1 Mutations Cause CMS;Salpietro;Ann Neurol,2017
3. PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology: PDE10A and ADCY5 Mutations Pathology;Niccolini;Mov Disord,2018
4. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment;Zollo;Brain,2017
5. A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function;Salpietro;Hum Mutat,2018
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