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Results 1 - 6 of 6 for Ataxia with oculomotor apraxia type 3
  1. ... or 4, respectively. Mutations in another gene cause ataxia with oculomotor apraxia type 3.The APTX, SETX, and PNKP genes provide instructions ... Ataxia - oculomotor apraxia type 4 Genetic Testing Registry: Ataxia with ... type 3 Genetic Testing Registry: Ataxia, early-onset, with oculomotor ...
  2. ... P, Guerreiro R. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j.ajhg.2015. ...
  3. ... B, Gueven N, Lavin MF. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative ...
  4. ... the APTX gene have been found to cause ataxia with oculomotor apraxia type 1. This condition is characterized by difficulty coordinating ... the cerebellum, causing the characteristic movement problems of ataxia with oculomotor apraxia type 1. More About This Health Condition AOA AOA1 ...
  5. Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. ...
  6. ... gene have also been found to cause spinocerebellar ataxia, autosomal recessive ... (oculomotor apraxia). People with SCAR7 have progressive loss of cells ( ...