Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

Dario Ronchi, Edoardo Monfrini, Sara Bonato, Veronica Mancinelli, Claudia Cinnante, Sabrina Salani, Andreina Bordoni, Patrizia Ciscato, Francesco Fortunato, Marianna Villa, Alessio Di Fonzo, Stefania Corti, Nereo Bresolin, Giacomo P. Comi

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Medicine & Life Sciences