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
Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer.
Yao J et al.
Scientific Reports, 2023
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Osmanovic A et al.
Journal of Neurology, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
Sánchez-Ferrero E et al.
Clinical Genetics, 2013
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