Associated Papers
Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.
Step K et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M et al.
Orphanet Journal of Rare Diseases, 2024
39095811 (PubMed )
Supplement: 13023_2024_3297_MOESM2_ESM.xlsx › Sheet1
Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.
Alvarez Jerez P et al.
Npj Parkinson's Disease, 2023
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
35180557 (PubMed )
Supplement: mmc3.xlsx › List1
Whole-exome sequencing analysis to identify novel potential pathogenetic mutations in fetuses with abnormal brain structure.
Shi L et al.
Annals of Translational Medicine, 2021
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
Mariani LL et al.
Jama Neurology, 2016
Select a paper to view details