eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | |oculomotor apraxia |
| Sentences | 54 |
| PubMedID- 23593030 | Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (aoa2), plays an important role in maintaining genome integrity by coordination of transcription, dna replication, and the dna damage response. |
| PubMedID- 20713024 | (1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2. |
| PubMedID- 22736457 | ataxia with oculomotor apraxia type 1, another recessive ataxia, shares the biochemical features of susceptibility to dna damage with at (for a review, see rass et al., 2007), but also has no clear increased risk of neoplasia (le ber et al., 2003). |
| PubMedID- 21412945 | Aptx is the gene involved in ataxia with oculomotor apraxia type 1 (aoa1), a recessive disorder with early-onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. |
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