Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.N52fs
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PRKN

NM_004562.3:p.N52fs

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Anis S et al.

Parkinsonism & Related Disorders, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

41659036 (PubMed )
Supplement: DataSheet1.pdf

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

Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Cotrin JC et al.

Metabolic Brain Disease, 2024

Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.

Ngo KJ et al.

Npj Parkinson's Disease, 2024

38664407 (PubMed )
Supplement: 41531_2024_703_MOESM1_ESM.pdf

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ et al.

Npj Parkinson's Disease, 2024

Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.

Mutez E et al.

European Journal of Neurology, 2023

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Boyle L et al.

Hgg Advances, 2021

33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Robak LA et al.

Neurology. Genetics, 2020

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T et al.

Journal of Neurology, 2020

A genetic analysis of a Spanish population with early onset Parkinson's disease.

Cristina TP et al.

Plos One, 2020

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

Bandres-Ciga S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Parkin truncating variants result in a loss-of-function phenotype.

Santos M et al.

Scientific Reports, 2019

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Germer EL et al.

Frontiers in Neurology, 2019

31920912 (PubMed )
Supplement: Data_Sheet_1.pdf

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Morais S et al.

Neurology. Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."