Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 2025
Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.
Roychowdhury S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
SIGMAR1 variants in ALS-PD complex cases: a case report of a novel mutation and literature review.
Li H et al.
Frontiers in Neurology, 2023
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf
Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.
Aishwarya R et al.
Frontiers in Physiology, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
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
Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.
Arun AS et al.
Experimental Biology and Medicine (maywood, N.j.), 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf
Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis.
Izumi Y et al.
Geriatrics & Gerontology International, 2018
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.
Zhang H et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
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