Disease: Spastic paraplegia type 5A- recessive
- A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia
- A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia
- A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50
- AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
- Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
- Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations
- CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A
- Previously Undescribed Gross <em>HACE1</em> Deletions as a Cause of Autosomal Recessive Spastic Paraplegia
- SPG5 and multiple sclerosis: clinical and genetic overlap?