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4. 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]
5. 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]
6. 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]
7. Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations. González-Casacuberta I; Morén C; Juárez-Flores DL; Esteve-Codina A; Sierra C; Catalán-García M; Guitart-Mampel M; Tobías E; Milisenda JC; Pont-Sunyer C; Martí MJ; Cardellach F; Tolosa E; Artuch R; Ezquerra M; Fernández-Santiago R; Garrabou G Neurobiol Aging; 2018 May; 65():206-216. PubMed ID: 29501959 [TBL] [Abstract][Full Text] [Related]
8. PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants. Clausen L; Okarmus J; Voutsinos V; Meyer M; Lindorff-Larsen K; Hartmann-Petersen R Cell Mol Life Sci; 2024 May; 81(1):223. PubMed ID: 38767677 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease. Trinh J; Hicks AA; König IR; Delcambre S; Lüth T; Schaake S; Wasner K; Ghelfi J; Borsche M; Vilariño-Güell C; Hentati F; Germer EL; Bauer P; Takanashi M; Kostić V; Lang AE; Brüggemann N; Pramstaller PP; Pichler I; Rajput A; Hattori N; Farrer MJ; Lohmann K; Weissensteiner H; May P; Klein C; Grünewald A Brain; 2023 Jul; 146(7):2753-2765. PubMed ID: 36478228 [TBL] [Abstract][Full Text] [Related]
11. Generation of induced pluripotent stem cells (NIMHi015-A) from a Parkinson's Disease patient harbouring a homozygous Exon 3 deletion in the PRKN gene. Banerjee R; Ghanty R; Jagtap S; Holla V; Kamble N; Yadav R; Pal PK; Datta I Stem Cell Res; 2024 Jun; 77():103440. PubMed ID: 38739971 [TBL] [Abstract][Full Text] [Related]
12. Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease. Ton ND; Thuan ND; Thuong MTH; Ngoc TTB; Nhung VP; Hoa NTT; Nam NH; Dung HT; Son ND; Ba NV; Bac ND; Tai TN; Dung LTK; Hung NT; Duong NT; Ha NH; Hai NV Mol Genet Genomic Med; 2020 Oct; 8(10):e1463. PubMed ID: 32856414 [TBL] [Abstract][Full Text] [Related]
13. Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease. Pandey S; Tomar LR; Kumar S; Dinesh S; Thelma BK Parkinsonism Relat Disord; 2019 Sep; 66():216-219. PubMed ID: 31409571 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Mitochondrial and autophagic alterations in skin fibroblasts from Parkinson disease patients with Parkin mutations. González-Casacuberta I; Juárez-Flores DL; Ezquerra M; Fucho R; Catalán-García M; Guitart-Mampel M; Tobías E; García-Ruiz C; Fernández-Checa JC; Tolosa E; Martí MJ; Grau JM; Fernández-Santiago R; Cardellach F; Morén C; Garrabou G Aging (Albany NY); 2019 Jun; 11(11):3750-3767. PubMed ID: 31180333 [TBL] [Abstract][Full Text] [Related]
18. Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease. Cotrin JC; Piergiorge RM; Gonçalves AP; Pereira JS; Gerber AL; de Campos Guimarães AP; de Vasconcelos ATR; Santos-Rebouças CB Metab Brain Dis; 2024 Jun; 39(5):915-928. PubMed ID: 38836947 [TBL] [Abstract][Full Text] [Related]
19. Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons. Grossmann D; Malburg N; Glaß H; Weeren V; Sondermann V; Pfeiffer JF; Petters J; Lukas J; Seibler P; Klein C; Grünewald A; Hermann A Mov Disord; 2023 Oct; 38(10):1822-1836. PubMed ID: 37449534 [TBL] [Abstract][Full Text] [Related]
20. Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family. Castelo Rueda MP; Gilmozzi V; Riekschnitz DA; Di Segni M; Silipigni R; Pramstaller PP; Hicks AA; Pichler I; Zanon A Stem Cell Res; 2022 Apr; 60():102692. PubMed ID: 35121197 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]