Disease: Charcot-Marie-Tooth disease with pyramidal features- autosomal dominant
- 'Ear of the lynx' sign: hereditary spastic paraplegia (HSP) type 11
- <em>ATAD3A</em> gene variations in a family with Harel-Yoon syndrome
- A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia
- A Novel <em>SPAST</em> Variant Associated with Isolated Spastic Paraplegia
- A novel ATP13A2 variant causing complicated hereditary spastic paraplegia
- 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 SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia
- 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
- AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
- Acute Ophthalmoplegia with Wernicke-Like MRI Pattern in a Patient with HPDL-Related Disorder
- 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
- AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
- Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons
- ATP13A2 (PARK9) and basal ganglia function
- Autosomal Dominant Spastic Paraplegia With Dysregulation of Bowel Function Associated With Heterozygous AP4S1 Gene Mutation: Case Report
- 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
- Bi-allelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia
- Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
- Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia
- 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
- 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
- DDHD2 promotes lipid droplet catabolism by acting as a TAG lipase and a cargo receptor for lipophagy
- DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins
- Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice
- Defining the progeria phenome
- Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
- Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia
- Distal hereditary motor neuropathies
- Diving deep: zebrafish models in motor neuron degeneration research
- Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia
- Editorial: Genetic research into neurodegenerative disorders
- Emerging therapies for childhood-onset movement disorders
- ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway
- Establishment of a registry of clinical data and bioresources for rare nervous system diseases
- 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
- 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 Myelopathies
- 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: Manifestations and treatment challenges
- Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
- 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
- Identification and analyses of exonic and copy number variants in spastic paraplegia
- ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family
- KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing
- Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic Paraplegias
- Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
- Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia
- Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
- Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia
- MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
- Neurodegeneration-related genes influence <em>C. elegans</em> pharyngeal activity
- Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
- Novel genetic variant in hereditary spastic paraparesis
- Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)
- Outcome measures for hereditary spastic paraplegia clinical trials: Learnings from an Australian HSP center
- Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
- Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A
- 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
- 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
- RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
- Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination
- Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
- Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
- SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
- Spastin and alsin protein interactome analyses begin to reveal key canonical pathways and suggest novel druggable targets
- 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 various forms of hereditary motor neuron disorders and their historical descriptions
- Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report
- Unexpected complexity in the molecular diagnosis of spastic paraplegia 11
- 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
- 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