Associated Papers
Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.
Aishwarya R et al.
Frontiers in Physiology, 2021
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
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.
Almendra L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Select a paper to view details