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Article
Clinical Neurology
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
Francois Muratet et al.
Summary: Nearsplice/intronic mutations in the SOD1 gene account for a significant portion of French familial ALS cases, and the systematic analysis of SOD1 mRNA sequence could be the method of choice for SOD1 screening to not overlook these specific cases.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)
Article
Genetics & Heredity
A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS
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ANNALS OF HUMAN GENETICS (2009)
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