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 › TableS2c_predicted_DM_URVs
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
SPG7 mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.
Madhavi K et al.
Clinical Parkinsonism & Related Disorders, 2024
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.
Sáenz-Farret M et al.
Movement Disorders Clinical Practice, 2022
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Hereditary spastic paraplegia presenting as limb dystonia with a rare SPG7 mutation.
Schaefer SM et al.
Neurology. Clinical Practice, 2018
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