Disease: Spastic paraplegia 3- autosomal dominant
- A case of psychotic heredity associated with familial neurodyscrasia (Struempell Lorrain disease and manic-depressive psychosis)
- A case of Strümpell's disease
- A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
- A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif
- A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance
- A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype
- A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
- A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics
- A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia
- A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
- A recurrent de novo <em>HSPD1</em> variant is associated with hypomyelinating leukodystrophy
- Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
- Anaesthesia and orphan disease: Management of a case of Strumpell-Lorrain disease and review of the literature
- Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China
- Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1
- Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3
- Autosomal dominant spastic paraplegias
- Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan
- Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
- Clinical and Genetic Features of Chinese Patients With <em>NIPA1</em>-Related Hereditary Spastic Paraplegia Type 6
- Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children
- Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach
- Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia
- Clinical features and management of hereditary spastic paraplegia
- Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
- Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children
- Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia
- Copy number variations in SPAST and ATL1 are rare among Brazilians
- Costeff syndrome: clinical features and natural history
- Data on the casuistics of familial spastic spinal paralysis (Strümpell-Lorain-Schaeffer disease): 5 cases in 2 families
- De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling
- De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations
- Deep Intronic <em>FGF14</em> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
- Design and Synthesis of Fsp3-Enriched Spirocyclic-Based Biological Screening Compound Arrays via DOS Strategies and Their NNMT Inhibition Profiling
- Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia
- Dopa-responsive dystonia--clinical and genetic heterogeneity
- Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
- Electroencephalogram in Wilson-Westphal-Strumpell disease
- Endovascular aneurysm repair for aorto-iliac artery pathologies in patients with autosomal dominant polycystic kidney disease
- Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
- Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia
- Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
- Extremely severe complicated spastic paraplegia 3A with neonatal onset
- Familial spastic paralysis (Struempell-Lorrain disease)
- Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia
- Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
- Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec
- Genetic and phenotypic characterization of complex hereditary spastic paraplegia
- Genetic testing in hereditary spastic paraplegia
- Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese
- Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations
- Hereditary optic neuropathies in pediatric ophthalmology
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family
- Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
- Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia
- Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
- LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
- Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology
- Marie-Strumpell disease treated by X-ray
- More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review
- 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
- Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
- Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China
- Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia
- Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
- MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia
- Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations
- On the pathomorphology and pathochemistry of Wilson-Westphal-Strümpell disease
- Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways
- Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study
- Pathological anatomy and pathology of inflammatory ankylosing spondylitis (Bechterew-Marie-Strumpell disease)
- Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
- Preimplantation Genetic Testing for Spastic Paraplegia Type 3
- Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia
- Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin
- Rare disease models provide insight into inherited forms of neurodegeneration
- Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET
- SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group
- Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease
- Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation
- SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
- SPG8 mutations in Italian families: clinical data and literature review
- SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
- Spinal cord involvement in adult-onset metabolic and genetic diseases
- Strumpëll's disease
- Study of the etiology of ankylosing spondylitis (Bechterew-Marie-Strümpell disease) based on 215 cases hospitalized at the Rizzoli Orthopedic Institute
- Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
- The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
- Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
- Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran
- Use of sugammadex in Strumpell-Lorrain disease: a report of two cases
- Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey
- Wilson-Westphal-Strümpell disease (hepatic cirrhosis & neuropsychic syndrome) in 2 children of consanguineous parents with onset in early childhood
- Wilson-Westphal-Strümpell disease (liver cirrhosis & neuropsychiatric syndrome) in two siblings of consanguineous parents: commencement in early childhood
- Δ<sup>1</sup> -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder