Associated Papers
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.
Jimoh IJ et al.
Clinical Genetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G et al.
Neurology, 2019
Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.
Liu Y et al.
European Neurology, 2019
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis.
Gazulla J et al.
Case Reports in Neurology, 0
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