Disease: Hereditary spastic paraplegia
- <em>ATAD3A</em> gene mutations in a family with Harel-Yoon syndrome
- <em>ATAD3A</em> gene variations in a family with Harel-Yoon syndrome
- A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1
- A new phenotype of TUBB4A mutation in a family with adult-onset progressive spastic paraplegia and isolated hypomyelination leukodystrophy: A case report and literature review
- A Novel <em>SPAST</em> Variant Associated with Isolated Spastic Paraplegia
- A novel ATP13A2 variant causing complicated hereditary spastic paraplegia
- A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature
- A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients
- A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
- A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
- A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants
- A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias
- Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review
- Advance of research on Hereditary spastic paraplegia type 4
- An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells
- ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model
- ATP13A2 (PARK9) and basal ganglia function
- Axonal organelle buildup from loss of AP-4 complex function causes exacerbation of amyloid plaque pathology and gliosis in Alzheimer's disease mouse model
- Behr's syndrome mimicking a case of hereditary spastic paraparesis
- Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
- Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
- Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype
- Case report: A novel <em>WASHC5</em> variant altering mRNA splicing causes spastic paraplegia in a patient
- Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4
- Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
- Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
- Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation
- Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A
- Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11
- Cohort analysis of novel <em>SPAST</em> variants in SPG4 patients and implementation of <em>in vitro</em> and <em>in vivo</em> studies to identify the pathogenic mechanism caused by splicing mutations
- Computational study of the motor neuron protein KIF5A to identify nsSNPs, bioactive compounds, and its key regulators
- Cooperation of acylglycerol hydrolases in neuronal lipolysis
- Cooperative lipolytic control of neuronal triacylglycerol by spastic paraplegia-associated enzyme DDHD2 and ATGL
- Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
- Corrigendum to "NMNAT1 and hereditary spastic paraplegia (HSP): Expanding the phenotypic spectrum of NMNAT1 variants" [Neuromuscular Disorders, 33(2023) 295-301]
- Cryo-EM structure and molecular dynamic simulations explain the enhanced stability and ATP activity of the pathological chaperonin mutant
- Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models
- Dalfampridine as a promising agent in the management of hereditary spastic paraplegia: A triple-blinded, randomized, placebo-controlled pilot trial
- DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins
- Defining the progeria phenome
- Description of Phenotypic Heterogeneity in a <em>GJC2</em>-Related Family and Literature Review
- Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
- Distal hereditary motor neuropathies
- Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene
- Editorial: Genetic research into neurodegenerative disorders
- Emerging therapies for childhood-onset movement disorders
- Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
- Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia
- First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia
- Fragile X premutation mimicking late onset hereditary spastic paraplegia
- Gait analysis patterns and rehabilitative interventions to improve gait in persons with hereditary spastic paraplegia: a systematic review and meta-analysis
- Gangliosides as Therapeutic Targets for Neurodegenerative Diseases
- Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
- Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
- Genetic Myelopathies
- Hereditary spastic paraparesis due to SPG5/CYP7B1 mutation with potential therapeutic implications
- Hereditary Spastic Paraplegia due to <em>LYST</em> Gene Mutation: A Novel Causative Gene
- Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics
- Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
- Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
- Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms
- High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia
- Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia
- KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing
- Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
- Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias
- Movement disorders in hereditary spastic paraplegias
- Neurodegeneration-related genes influence <em>C. elegans</em> pharyngeal activity
- Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
- Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review
- Novel <em>TFG</em> mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
- Novel genetic variant in hereditary spastic paraparesis
- Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)
- Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
- Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7-Related Hereditary Spastic Paraplegia
- Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias
- Postural control deficits due to bilateral pyramidal tract lesions exemplified by hereditary spastic paraplegia (HSP) originate from increased feedback time delay and reduced long-term error corrections
- Primary Lateral Sclerosis: An Overview
- RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation
- Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5
- Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
- Retinal ganglion cell and microvascular density loss in hereditary spastic paraplegia
- Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans
- Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination
- Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
- Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series
- The motor band sign differentiates hereditary spastic paraplegia from the others upper motor neuron syndromes
- The Reelin Receptor ApoER2 is a Cargo for the Adaptor Protein Complex AP-4: Implications for Hereditary Spastic Paraplegia
- The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia
- The Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mouse and Human
- The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review
- Trans-Spinal Direct Current Stimulation in Neurological Disorders: A systematic review
- Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report
- Unraveling Axonal Transcriptional Landscapes: Insights from iPSC-Derived Cortical Neurons and Implications for Motor Neuron Degeneration
- Upper motor neuron signs in primary lateral sclerosis and hereditary spastic paraplegia
- Using Drosophila Larval Neuromuscular Junction and Muscle Cells to Visualize Microtubule Network
- Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia
- Vitamin D(3) deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia