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Article

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

12 Sept 2022

Abstract excerpt

Background and Objectives Pathogenic variations in fused in sarcoma (FUS) are among the most common genetic causes of amyotrophic lateral sclerosis (ALS) worldwide. They are supposedly characterized by a homogeneous pure motor phenotype with early-onset and short disease duration. However, a few FUS-mutated cases with a very late disease onset and slow progression have been reported. To analyze genotype-phenotype...

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PMID: 36105853
DOI: 10.1212/nxg.0000000000200011

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