Associated Papers
A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient.
Deppe J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M et al.
Brain : a Journal of Neurology, 2022
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