Disease: Spastic paraplegia 9- autosomal dominant
- Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey
- Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
- Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia
- KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
- Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review
- Novel Compound Missense and Intronic Splicing Mutation in <em>ALDH18A1</em> Causes Autosomal Recessive Spastic Paraplegia
- P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9
- Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study
- SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
- SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
- The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China
- The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
- Δ<sup>1</sup> -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder