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 › S2_Variants
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K et al.
Neurological Research, 2022
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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