Associated Papers
VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's disease.
Malfer L et al.
Parkinsonism & Related Disorders, 2026
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Papagiannakis N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2.
Zanon A et al.
Journal of Translational Medicine, 2024
38229174 (PubMed )
Supplement: 12967_2024_4850_MOESM1_ESM.docx
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2023
36781956 (PubMed )
Supplement: 41431_2023_1312_MOESM4_ESM.pdf
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.
Amar M et al.
Molecular Psychiatry, 2021
33727673 (PubMed )
Supplement: 41380_2021_1052_MOESM1_ESM.xlsx › Sheet1
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
Genomic instability in the PARK2 locus is associated with Parkinson's disease.
Ambroziak W et al.
Journal of Applied Genetics, 2015
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