Disease: Spastic paraplegia 20- autosomal recessive
- 'Complicated' autosomal dominant familial spastic paraplegia is genetically distinct from 'pure' forms
- <em>ALS2</em>-Related Disorder
- <em>SPG20</em> mutation in three siblings with familial hereditary spastic paraplegia
- A new family with spastic paraplegia type 51 and novel mutations in AP4E1
- A Novel <em>SPG7</em> Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
- A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
- A novel missense mutation (c.1006C>T) of <em>SPG20</em> gene associated with Troyer syndrome
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy
- Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
- Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
- AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
- Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
- CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia
- Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI
- Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement
- CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
- Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells
- Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report
- Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum
- Do you know this syndrome? Sjogren-Larsson syndrome
- Dominant optic atrophy
- Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review
- Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome
- Final Exon Frameshift Biallelic <em>PTPN23</em> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
- Frequency of hereditary neurologic diseases. A clinical study
- Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum
- Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families
- Hereditary "pure" spastic paraplegia: a study of nine families
- Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
- Hereditary optic neuropathies in pediatric ophthalmology
- Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
- Hereditary spastic paraplegias: an update
- Japan Spastic Paraplegia Research Consortium (JASPAC)
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
- KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
- KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
- Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
- Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia
- Methylation Heterogeneity and Gene Expression of SPG20 in Solid Tumors
- Molecular genetics of familial spastic paraplegia: a multitude of responsible genes
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
- Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
- Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia
- Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
- Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
- Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome
- Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum
- Novel SPG20 mutation in an extended family with Troyer syndrome
- Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study
- Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
- RAB18 Deficiency
- Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with <em>MTHFR</em> Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association
- Recurrent null mutation in SPG20 leads to Troyer syndrome
- Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
- Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
- SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate
- Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization
- Spartin-mediated lipid transfer facilitates lipid droplet turnover
- Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
- Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
- SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
- SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q
- SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis
- Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling
- Study on argyrophilic inclusions of multisystem atrophy (Oppenheimer)
- The perinatal phenotype of Troyer syndrome: Case report and literature review
- The role of spartin and its novel ubiquitin binding region in DALIS occurrence
- The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia
- The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets
- Three cases of Troyer syndrome in two families of Filipino descent
- Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
- Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran
- VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis