Associated Papers
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F et al.
Journal of Human Genetics, 2022
A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family.
Dong HL et al.
Brain : a Journal of Neurology, 2021
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au KS et al.
Scientific Reports, 2021
33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3
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