Disease: Spastic paraplegia 25- autosomal recessive
- <em>ALS2</em>-Related Disorder
- <em>CAPN1</em> and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation
- <em>ENTPD1</em>-Related Neurodevelopmental Disorder
- <em>PI4KA</em>-Related Disorder
- <em>PNPLA6</em> Disorders
- <em>TECPR2</em>-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
- A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta
- A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
- A new phenotype linked to SPG27 and refinement of the critical region on chromosome
- A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
- A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81
- A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
- A Novel Missense Mutation of the <em>DDHD1</em> Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
- A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects
- A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome
- An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
- AP-4-Associated Hereditary Spastic Paraplegia
- Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI
- Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5
- Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia
- Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
- Clinical spectrum in multiple families with primary COQ<sub>10</sub> deficiency
- Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations
- Disc degeneration-related clinical phenotypes
- Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
- Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- FARS2 Deficiency
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- Functional evaluation of paraplegin mutations by a yeast complementation assay
- Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence
- Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese
- Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families
- Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
- Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity
- Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
- Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
- Hypermanganesemia with Dystonia 1
- Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
- Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29
- MRI study of three siblings of suspicious Sjögren-Larsson syndrome
- Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
- Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia
- Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
- Pre- and Postnatal Characterization of Autosomal Recessive <em>KIDINS220</em>-Associated Ventriculomegaly
- Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
- RAB18 Deficiency
- Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report
- Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation
- Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia
- Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
- SERAC1 Deficiency
- Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia
- Spastic Paraplegia 11
- Spastic Paraplegia 15
- Spastic Paraplegia 7
- Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
- Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
- SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
- Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome
- Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
- TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs
- The role of spartin and its novel ubiquitin binding region in DALIS occurrence
- The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets
- Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum