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6. PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations. Ghazavi F; Fazlali Z; Banihosseini SS; Hosseini SR; Kazemi MH; Shojaee S; Parsa K; Sadeghi H; Sina F; Rohani M; Shahidi GA; Ghaemi N; Ronaghi M; Elahi E Mov Disord; 2011 Jan; 26(1):80-9. PubMed ID: 21322020 [TBL] [Abstract][Full Text] [Related]
7. Parkin mutation decreases neurite complexity and maturation in neurons derived from human fibroblasts. Pu J; Gao T; Zheng R; Fang Y; Ruan Y; Jin C; Shen T; Tian J; Zhang B Brain Res Bull; 2020 Jun; 159():9-15. PubMed ID: 32156628 [TBL] [Abstract][Full Text] [Related]
8. A Splice Intervention Therapy for Autosomal Recessive Juvenile Parkinson's Disease Arising from Parkin Mutations. Li D; Aung-Htut MT; Ham KA; Fletcher S; Wilton SD Int J Mol Sci; 2020 Oct; 21(19):. PubMed ID: 33019779 [TBL] [Abstract][Full Text] [Related]
9. Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease. Ross OA; Haugarvoll K; Stone JT; Heckman MG; White LR; Aasly JO; Mark Gibson J; Lynch T; Wszolek ZK; Uitti RJ; Farrer MJ Parkinsonism Relat Disord; 2007 Oct; 13(7):386-8. PubMed ID: 17400506 [TBL] [Abstract][Full Text] [Related]
10. Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease. Daida K; Funayama M; Billingsley KJ; Malik L; Miano-Burkhardt A; Leonard HL; Makarious MB; Iwaki H; Ding J; Gibbs JR; Ishiguro M; Yoshino H; Ogaki K; Oyama G; Nishioka K; Nonaka R; Akamatsu W; Blauwendraat C; Hattori N Mov Disord; 2023 Dec; 38(12):2249-2257. PubMed ID: 37926948 [TBL] [Abstract][Full Text] [Related]
11. Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk. Lubbe SJ; Bustos BI; Hu J; Krainc D; Joseph T; Hehir J; Tan M; Zhang W; Escott-Price V; Williams NM; Blauwendraat C; Singleton AB; Morris HR; Hum Mol Genet; 2021 Mar; 30(1):78-86. PubMed ID: 33448283 [TBL] [Abstract][Full Text] [Related]
12. Mitochondrial impairment observed in fibroblasts from South African Parkinson's disease patients with parkin mutations. van der Merwe C; Loos B; Swart C; Kinnear C; Henning F; van der Merwe L; Pillay K; Muller N; Zaharie D; Engelbrecht L; Carr J; Bardien S Biochem Biophys Res Commun; 2014 May; 447(2):334-40. PubMed ID: 24721425 [TBL] [Abstract][Full Text] [Related]
13. Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Borsche M; König IR; Delcambre S; Petrucci S; Balck A; Brüggemann N; Zimprich A; Wasner K; Pereira SL; Avenali M; Deuschle C; Badanjak K; Ghelfi J; Gasser T; Kasten M; Rosenstiel P; Lohmann K; Brockmann K; Valente EM; Youle RJ; Grünewald A; Klein C Brain; 2020 Oct; 143(10):3041-3051. PubMed ID: 33029617 [TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations. Erer S; Egeli U; Zarifoglu M; Tezcan G; Cecener G; Tunca B; Ak S; Demirdogen E; Kenangil G; Kaleagası H; Dogu O; Saka E; Elibol B Clin Neurol Neurosurg; 2016 Sep; 148():147-53. PubMed ID: 27455133 [TBL] [Abstract][Full Text] [Related]
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16. Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease. Papagiannakis N; Liu H; Koros C; Simitsi AM; Stamelou M; Maniati M; Buena-Atienza E; Kartanou C; Karadima G; Makrythanasis P; Vatsellas G; Valente EM; Gasser T; Stefanis L Mov Disord; 2024 Apr; 39(4):715-722. PubMed ID: 38357851 [TBL] [Abstract][Full Text] [Related]
17. Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene. Pavan C; Jin J; Jong S; Strbenac D; Davis RL; Sue CM; Johnston J; Lynch T; Halliday G; Kirik D; Parish CL; Thompson LH; Ovchinnikov DA Stem Cell Res; 2023 Dec; 73():103211. PubMed ID: 37890334 [TBL] [Abstract][Full Text] [Related]
18. Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease. Halder T; Verma SP; Raj J; Pandey S; Singh RK; Sharma V; Joshi D; Das P Indian J Med Res; 2020 Nov; 152(5):498-507. PubMed ID: 33707392 [TBL] [Abstract][Full Text] [Related]
19. Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. Deng H; Le WD; Hunter CB; Ondo WG; Guo Y; Xie WJ; Jankovic J Arch Neurol; 2006 Feb; 63(2):273-7. PubMed ID: 16476817 [TBL] [Abstract][Full Text] [Related]
20. Lipid profiling of parkin-mutant human skin fibroblasts. Lobasso S; Tanzarella P; Vergara D; Maffia M; Cocco T; Corcelli A J Cell Physiol; 2017 Dec; 232(12):3540-3551. PubMed ID: 28109117 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]