Associated Papers
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Monfrini E et al.
Annals of Neurology, 2021
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.
Hörtnagel K et al.
Journal of Inherited Metabolic Disease, 2016
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