Item Type | Name |
---|---|
Academic Article | SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. |
Academic Article | Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. |
Academic Article | A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. |
Academic Article | Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. |
Academic Article | Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. |
Concept | Muscular Atrophy, Spinal |
Concept | Optic Atrophy, Autosomal Dominant |
Concept | Atrophy |
Concept | Optic Atrophy |
Academic Article | Mutations in TAF8 cause a neurodegenerative disorder. |