Recessive mutations in VPS13D cause childhood onset movement disorders
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25204
Abstract: VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a… read more here.
Keywords: movement; recessive mutations; childhood onset; movement disorders ... See more keywords
Acute onset movement disorders in diabetes mellitus: A clinical series of 59 patients
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DOI: 10.1111/ene.15353
Abstract: No previous study has assessed the frequency and clinical–radiological characteristics of patients with diabetes mellitus (DM) and acute onset nonchoreic and nonballistic movements. We conducted a prospective study to investigate the spectrum of acute onset… read more here.
Keywords: movement disorders; diabetes mellitus; onset movement; disorders diabetes ... See more keywords