Associated Papers
ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family.
Li R et al.
Frontiers in Neurology, 2024
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
Terry LE et al.
The Journal of Biological Chemistry, 2020
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M et al.
European Journal of Human Genetics : Ejhg, 2018
Select a paper to view details