A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family
Author:
Affiliation:
1. Department of Anatomy and Morphological Sciences, Federal University of Ceará, Ceará, Brazil and
2. Department of Internal Medicine, Neurology Division, Federal University of Ceará, Ceará, Brazil
Funder
Universidade Federal do Ceará
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/21678421.2024.2346824
Reference9 articles.
1. The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
2. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
3. Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
4. Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
5. A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity
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1. Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2024-07-04
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