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Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants

1 Nov 2024

Abstract excerpt

Background and Objectives: -linked ALS are being used in practical applications, the types of variants and the clinical features of patients need to be updated. Methods: -linked ALS as the most common in our cohort, updated their genotypes, and characterized clinical phenotypes. Results: -linked ALS. Lower limb onset comprised 70% of cases. The mean disease duration was 64.7 ± 82 months, and the median survival...

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Amyotrophic Lateral Sclerosis Research
Genetic Neurodegenerative Diseases
Neurogenetic and Muscular Disorders Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39502740
DOI: 10.1212/nxg.0000000000200196

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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