English Niemann–Pick disease, type C Cited by user Koermo on 19 Sep 2012 Niemann–Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.
English Niemann–Pick disease Cited by user Koermo on 19 Sep 2012 Accumulation of sphingomyelin in the central nervous system (including the cerebellum) results in unsteady gait (ataxia), slurring of speech (dysarthria), and…
English NPC1 Cited by user Koermo on 19 Sep 2012 NPC1 is a protein that in humans is encoded by the NPC1 gene (chromosome location 18q11).
English Myelin regulatory factor Cited by user Koermo on 19 Sep 2012 Myelin regulatory factor (MyRF) also known as myelin gene regulatory factor (MRF) is a protein that in humans is encoded by the MYRF gene.