Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2021
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
A second leaky splice-site mutation in the spastin gene.
Svenson IK et al.
American Journal of Human Genetics, 2001
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
Svenson IK et al.
American Journal of Human Genetics, 2001
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