Associated Papers
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.
Gable DL et al.
American Journal of Medical Genetics. Part A, 2022
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M et al.
Brain : a Journal of Neurology, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT et al.
Brain : a Journal of Neurology, 2021
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