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
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
27077743 (PubMed )
Supplement: pone.0153283.s002.pdf
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L et al.
Neuroscience Letters, 2012
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Proukakis C et al.
Human Mutation, 2003
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
Hentati A et al.
Neurology, 2000
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