eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | axonal neuropathy |
| Comorbidity | C0524851|neurodegenerative disease |
| Sentences | 2 |
| PubMedID- 22155078 | Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 25327705 | This concept is best illustrated by a catalytic tdp1 mutant that forms the molecular basis of the autosomal recessive neurodegenerative disease spinocerebellar ataxia with axonal neuropathy, and results in an increased stability of its tdp1-dna reaction intermediate. |
Page: 1