Home Contact Sitemap

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).

Page: 1