Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
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Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
ESCRT disruption provides evidence against trans-synaptic signaling via extracellular vesicles
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The journal of cell biology - ISSN 0021-9525-223:9 (2024) p. 1-26
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
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medRxiv : the preprint server for health sciences- (2024) p.
Non-muscle myosin II regulates presynaptic actin assemblies and neuronal mechanobiology
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- (2023) p. 1-34
ESCRT disruption provides evidence against signaling functions for synaptic exosomes
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- (2023) p. 1-28