PedAM
Pediatric Disease Annotations & Medicines
| Disease | ocular motor apraxia |
| Phenotype | C0004134|ataxia |
| Sentences | 5 |
| PubMedID- 26256098 | Mutations in aptx cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (aoa1). |
| PubMedID- 21486904 | Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia-oculomotor apraxia 1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. |
| PubMedID- 25845762 | Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset. |
| PubMedID- 20687492 | Significant attention has been given on the dna ssb repair (ssbr) system in neurons, because the impairment of the ssbr causes human neurodegenerative disorders, including early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh), also known as ataxia-oculomotor apraxia type 1 (aoa1). |
| PubMedID- 23370611 | From anti-gad to ataxia with ocular motor apraxia type 2: through the looking glass. |
Page: 1