PedAM
Pediatric Disease Annotations & Medicines
| Disease | axonal neuropathy |
| Phenotype | C0524851|neurodegenerative disease |
| Sentences | 2 |
| 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. |
| PubMedID- 22155078 | Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1). |
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