Disease: Spastic paraplegia 29- autosomal dominant
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
- Advances of genetic research on the SPG4 gene
- Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes
- Characterization of spastic paraplegia in a family with a novel <em>PSEN1</em> mutation
- Characterization of spastic paraplegia in a family with a novel PSEN1 mutation
- Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach
- Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males
- Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene
- Frequency of hereditary neurologic diseases. A clinical study
- Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
- Hereditary optic neuropathies in pediatric ophthalmology
- Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency
- LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
- Multi-system neurological disease is common in patients with OPA1 mutations
- Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
- 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
- Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
- Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
- Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia
- RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement
- Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?
- SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
- Subtle cognitive impairment but no dementia in patients with spastin mutations
- The phenotype of "pure" autosomal dominant spastic paraplegia
- 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