Kudos to Davide Fontanesi, Giulia Saccardin, Edoardo Monfrini, Barbara Garavaglia, Alessio Di Fonzo, and the entire team behind this work.

#dystonia #neurogenetics #VPS16 #MDSGene #movementdisorders #movedisorder

In this paper, we describe a newly identified case of VPS16-related hyperkinetic disorder and offer a detailed literature review on phenotype based on the MDS Gene methodology, with particular attention to onset, progression and peculiar clinical features.

@europepmc.org does have all* of PubMed indexed (and indeed partners with PMC for full text) - in addition to other sources (incl. for preprints).

OpenAlex (openalex.org) and Lens (lens.org) similarly include all* PubMed records, as does @openaire.bsky.social (but less easy to filter in webUI)

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