Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P14
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
da Graça FF et al.
Cerebellum (london, England), 2022
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G et al.
Neurology, 2019
High diagnostic yield and novel variants in very late-onset spasticity.
Almomen M et al.
Journal of Neurogenetics, 2019
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Burguez D et al.
Journal of the Neurological Sciences, 2017
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