Associated Papers
SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.
Kong M et al.
Functional & Integrative Genomics, 2024
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
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in Neurology, 2020
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
Li X et al.
Neurology, 2015
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