Disease: Olivopontocerebellar atrophy deafness
- A PATIENT WITH OLIVOPONTOCEREBELLAR ATROPHY
- A syndrome of olivopontocerebellar atrophy and deafness with onset in infancy
- DIDMOAD (Wolfram) syndrome
- Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome
- Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies
- Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
- Neurologic manifestations in Wolfram's syndrome
- Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
- Wolfram syndrome: a neuropathological study