Associated Papers
Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
Athamneh M et al.
Journal of Cellular and Molecular Medicine, 2024
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S et al.
Brain Communications, 2024
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
33559681 (PubMed )
Supplement: awaa420_supplementary_data.zip › brain-2020-01257-File008.pdf
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