Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.
Zanin S et al.
Cellular and Molecular Life Sciences : Cmls, 2025
A novel SIGMAR1 missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China.
Yu Q et al.
Frontiers in Genetics, 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
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
35205364 (PubMed )
Supplement: genes-13-00318-s001.zip › genes-1565631-SI.pdf
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
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in Neurology, 2020
Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.
Nandhagopal R et al.
European Journal of Neurology, 2018
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.
Dreser A et al.
Cell Death and Differentiation, 2017
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A et al.
Neurology, 2016
Genotype-phenotype correlations of amyotrophic lateral sclerosis.
Li HF et al.
Translational Neurodegeneration, 2016
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
Li X et al.
Neurology, 2015
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
Lee JJY et al.
Child Neurology Open, 0
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