Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 2025
Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.
Zanin S et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.
Aishwarya R et al.
Frontiers in Physiology, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.
Ma MT et al.
Neuromuscular Disorders : Nmd, 2020
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A et al.
Journal of Medical Genetics, 2020
[Congenital hereditary motor and sensory neuropathy].
Routon MC et al.
Revue Neurologique, 1991
Select a paper to view details