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found that mutations in the PNPO genes R225H/C, D33V, and R116Q/P significantly reduced PNPO activity and increased the likelihood of PN-responsive epilepsy [35]

Patient samples were obtained under SingHealth CIRB Ref: 2004/407/F

When she wasn't losing weight, she supplemented her treatment with semaglutide

Lower baseline CSF -synuclein levels in the DATATOP study predicted a better preservation of cognitive function in early PD patients with up to 8 years of follow-up (Stewart et al., 2014)