Associated Papers
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.
Pedullà G et al.
Parkinsonism & Related Disorders, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM2_ESM.xlsx › Sheet2
Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.
Li C et al.
Journal of Parkinson's Disease, 2022
Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease.
Sosero YL et al.
Neurobiology of Aging, 2021
Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.
Al-Kasbi G et al.
Movement Disorders Clinical Practice, 2021
The PTRHD1 Mutation in Intellectual Disability.
Cheraghi S et al.
Archives of Iranian Medicine, 2021
Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population.
Chen SJ et al.
Neurobiology of Aging, 2021
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