Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11
Severe axonal neuropathy is a late manifestation of SPG11.
Manole A et al.
Journal of Neurology, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E et al.
Brain : a Journal of Neurology, 2016
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