Associated Papers
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
Orlacchio A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
[Spastic paraplegia caused by a novel mutation in the spastin gene (1207C-->G, P361R)--clinical features of a patient without family history].
Machino Y et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2008
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
Ivanova N et al.
Clinical Genetics, 2006
Four mutations of the spastin gene in Japanese families with spastic paraplegia.
Basri R et al.
Journal of Human Genetics, 2006
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Bürger J et al.
European Journal of Human Genetics : Ejhg, 2000
Select a paper to view details