Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral ...
A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxiatelangiectasia. We report that senataxin, defective in ataxia ...
The patient was a 67-year-old Japanese woman, who was born to consanguineous parents and attained normal developmental milestones during infancy. At ∼17 years old, she began falling frequently while ...
A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance
Several different autosomal recessive genetic disorders characterized by ataxia with oculomotor apraxia (AOA) have been identified with the unifying feature of defective DNA damage recognition and/or ...
New insight into the link between neurodegenerative disorders and inflammation has been gained by a new study that provides a framework to explore more fully the possibility that viral infection may ...
Ataxia with oculomotor apraxia is an autosomal recessive disease, originally described in Portuguese patients and later in Japanese patients. Symptoms first noticed appear between ages 1 and 16 years ...
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