Associated Papers
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
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S4
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders.
Fujitani M et al.
Cells, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Buelow M et al.
European Journal of Human Genetics : Ejhg, 2021
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