Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.V149A
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SOD1

NM_000454.5:p.V149A

Associated Papers

Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family.

Valančius D et al.

Neurology. Genetics, 2024

Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.

Wiesenfarth M et al.

Journal of Neurology, 2024

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Martinelli I et al.

Neural Regeneration Research, 2023

36571338 (PubMed )
Supplement: NRR-18-1427_Suppl2.pdf

The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.

Suthar SK et al.

Brain Sciences, 2023

36672132 (PubMed )
Supplement: brainsci-13-00151-s001.zip › brainsci-2094474-supplementary.pdf

Mutation-specific metabolic profiles in presymptomatic amyotrophic lateral sclerosis.

Xia K et al.

European Journal of Neurology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Ruffo P et al.

Genes, 2022

In vivo histopathological staging in C9orf72-associated ALS: A tract of interest DTI study.

Müller HP et al.

Neuroimage. Clinical, 2020

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."