Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 2025
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
Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.
Frezatti RSS et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
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
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