Disease: Spastic paraplegia epilepsy mental retardation
- <em>ENTPD1</em>-Related Neurodevelopmental Disorder
- A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the <em>SPG11</em> gene
- A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene
- AP4-assocated hereditary spastic paraplegias
- Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia
- De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
- Epigenetic regulation of <em>autophagy-related</em> genes: Implications for neurodevelopmental disorders
- Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
- Hereditary spastic paraplegia in Mali: epidemiological and clinical features
- Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies
- Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias
- Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
- Refining Genotypes and Phenotypes in <em>KCNA2</em>-Related Neurological Disorders
- SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia