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
Clues from a missense mutation of the adenosine A1 receptor gene associated with early-onset Parkinson's disease.
Ferré S et al.
Neural Regeneration Research, 2023
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
Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S7.44), a Mutation Associated with Parkinson's Disease.
Nasrollahi-Shirazi S et al.
Molecular Pharmacology, 2020
PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.
Elahi E
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.
Puschmann A
Current Neurology and Neuroscience Reports, 2017
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
Khodadadi H et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
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