Targeted NGS meets expert clinical characterization: Efficient ...
Objective Hereditary spastic paraplegia (HSP) is characterized by a bilaterally spastic gait pattern. During gait, increased trunk movements are ...
Genetic and phenotypic characterization of complex hereditary ...The term hereditary spastic paraplegia (HSP) refers to a large group of clinically and genetically heterogeneous neurodegenerative diseases, ... Mutations in the ER-shaping protein reticulon 2 cause the axon ...GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson's disease (PD) and tetrahydrobiopterin (BH4)-deficient ... 1 Partial loss of FITM2 function causes hereditary spastic paraplegia ...Summary. This study aimed to describe the clinical phenotype of a large collection of families with autosomal dominant pure hereditary spastic paraplegia ...
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