X denotes truncating mutation. PEST2 domain 345–377; UBA domain 387–436. *Two different mutations reported to cause this truncation. ‡ Results from splice site mutations (intron 7 ...

Symptoms of Paget’s disease include the fatigue and discomfort you have experienced. Sometimes, changes to bone shape are visible. People living with Paget’s are more susceptible to bone ...

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. Nat. Genet. 42 , 520–524 (2010).

Nonmotor symptoms may appear during the course of Parkinson's disease, complicating the advanced phase in particular, but are also common in the premotor phase of Parkinson's disease. The ...