Disease: Hereditary spastic paralysis- infantile onset ascending
- <em>ALS2</em>-Related Disorder
- A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis
- A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis
- A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria
- A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
- A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants
- AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin
- Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein
- ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules
- Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function
- Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS
- 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 presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant
- Conformational Dynamics and Molecular Characterization of Alsin MORN Monomer and Dimeric Assemblies
- Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
- Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families
- Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel <em>ALS2</em> Mutation
- Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel ALS2 Mutation
- Infantile ascending hereditary spastic paralysis: MRI findings in a 15-year-old girl
- Infantile onset ascending hereditary spastic paralysis
- Infantile onset of hereditary ascending spastic paralysis with bulbar involvement
- Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
- Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review
- Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration
- Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis
- Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
- Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies
- Teaching video neuroimages: clinical course of infantile ascending hereditary spastic paralysis
- The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
- The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
- Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease