Associated Papers
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
40750593 (PubMed )
Supplement: 41531_2025_1076_MOESM2_ESM.xlsx › Table_S3
Clinical and Genetic Characteristics of Parkinson's Disease Patients with Substantia Nigra Hyperechogenicity.
Milanowski Ł et al.
International Journal of Molecular Sciences, 2025
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.
Dulski J et al.
Neurologia I Neurochirurgia Polska, 2024
Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.
Milanowski ŁM et al.
Parkinsonism & Related Disorders, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation.
Ahlberg G et al.
Nature Communications, 2018
30333491 (PubMed )
Supplement: 41467_2018_6618_MOESM4_ESM.xlsx › Sheet1
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M et al.
Neurobiology of Aging, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Pankratz N et al.
Neurology, 2009
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
Foroud T et al.
Neurology, 2003
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