Disease: Spastic paraplegia 26- autosomal recessive
- A Compound Heterozygous Pathogenic Variant in <em>B4GALNT1</em> Is Associated With Axonal Charcot-Marie-Tooth Disease
- A novel homozygous variant in the <em>SPG7</em> gene presenting with childhood optic nerve atrophy
- AAA ATPases and hereditary spastic paraplegia
- AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
- Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment
- Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
- Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach
- Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis
- Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11)
- Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea
- Copy number variations in SPAST and ATL1 are rare among Brazilians
- Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis
- Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report
- Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia
- Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis
- Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
- Hereditary optic neuropathies in pediatric ophthalmology
- Hereditary spastic paraplegia with epileptic myoclonus
- Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report
- Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
- Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
- Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism
- Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study
- Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography
- Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy
- Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy
- Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections
- Recent advances of study on hereditary spastic paraplegia type 11
- Spastic Paraplegia 15
- Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
- SPG5 and multiple sclerosis: clinical and genetic overlap?
- The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients
- The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
- Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum
- Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia