Associated Papers
Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.
De Winter J et al.
The Journal of Physiology, 2025
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
AlQudairy H et al.
Orphanet Journal of Rare Diseases, 2025
40781329 (PubMed )
Supplement: 13023_2025_3810_MOESM2_ESM.xlsx › Supp._Table_1
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Buelow M et al.
European Journal of Human Genetics : Ejhg, 2021
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Wang CC et al.
American Journal of Human Genetics, 2018
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
Knierim E et al.
Human Genetics, 2017
Select a paper to view details