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validation of a cellular imaging based method as a potential biomarker for spg4 hereditary spastic paraplegia
Original title: “Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.”
unraveling spg46 clinical genetic and neuroimaging features
Original title: “Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features.”
ftld tdp 43 with motor neuron disease pathology in an autopsied patient with spastic paraplegia 30b harbouring a homozygous kif1a variant
Original title: “FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.”
expanding the genetic and clinical landscapes of hereditary spastic paraplegia hsp a cohort study of 103 families
Original title: “Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.”
genotype structure phenotype correlations define divergent natural history in early onset spastic paraplegia type 4
Original title: “Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.”
beyond mobility a prospective study on diet and metabolism in hereditary spastic paraplegia
Original title: “Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.”