Now showing items 1-6 of 6
Heterogeneidade genética em atrofia óptica autossômica dominante
(Conselho Brasileiro de Oftalmologia, 2002-08-01)
Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This ...
Multi-system neurological disease is common in patients with OPA1 mutations
(OXFORD UNIV PRESS, 2010)
Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal ...
Clinical Features And Management Of Hereditary Spastic Paraplegia [aspectos Clínicos E Manejo Das Paraplegias Espásticas Hereditárias]
(Arquivos de Neuro-Psiquiatria, 2014)