These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2. Park JS; Sue CM Curr Protein Pept Sci; 2017; 18(7):725-732. PubMed ID: 26965689 [TBL] [Abstract][Full Text] [Related]
6. Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation. Martino D; Melzi V; Franco G; Kandasamy N; Monfrini E; Di Fonzo A Parkinsonism Relat Disord; 2015 Nov; 21(11):1378-80. PubMed ID: 26421390 [No Abstract] [Full Text] [Related]
7. Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. Radi E; Formichi P; Di Maio G; Battisti C; Federico A J Cell Mol Med; 2012 Aug; 16(8):1916-23. PubMed ID: 22117566 [TBL] [Abstract][Full Text] [Related]
8. Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay. Kırımtay K; Temizci B; Gültekin M; Yapıcı Z; Karabay A Brain Res; 2021 Jan; 1750():147167. PubMed ID: 33091395 [TBL] [Abstract][Full Text] [Related]
9. Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. Podhajska A; Musso A; Trancikova A; Stafa K; Moser R; Sonnay S; Glauser L; Moore DJ PLoS One; 2012; 7(6):e39942. PubMed ID: 22768177 [TBL] [Abstract][Full Text] [Related]
11. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. Grünewald A; Arns B; Seibler P; Rakovic A; Münchau A; Ramirez A; Sue CM; Klein C Neurobiol Aging; 2012 Aug; 33(8):1843.e1-7. PubMed ID: 22296644 [TBL] [Abstract][Full Text] [Related]
12. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Behrens MI; Brüggemann N; Chana P; Venegas P; Kägi M; Parrao T; Orellana P; Garrido C; Rojas CV; Hauke J; Hahnen E; González R; Seleme N; Fernández V; Schmidt A; Binkofski F; Kömpf D; Kubisch C; Hagenah J; Klein C; Ramirez A Mov Disord; 2010 Sep; 25(12):1929-37. PubMed ID: 20683840 [TBL] [Abstract][Full Text] [Related]
13. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957 [TBL] [Abstract][Full Text] [Related]
14. From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations. Erro R; Picillo M; Manara R; Pellecchia MT; Barone P Parkinsonism Relat Disord; 2019 Aug; 65():272-273. PubMed ID: 31151786 [No Abstract] [Full Text] [Related]
15. Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation. Chatterjee K; Choudhury S; Shubham S; Mondal B; Basu P; Kumar H Parkinsonism Relat Disord; 2018 Jul; 52():117-118. PubMed ID: 29606608 [No Abstract] [Full Text] [Related]
16. Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. Miranda M; Harmuth F; Bustamante ML; Rossi M; Sturm M; Magnusson ÓT; Bauer P; Klockgether T; Ramirez A Parkinsonism Relat Disord; 2020 Dec; 81():45-47. PubMed ID: 33049588 [No Abstract] [Full Text] [Related]
17. ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein. Tsunemi T; Hamada K; Krainc D J Neurosci; 2014 Nov; 34(46):15281-7. PubMed ID: 25392495 [TBL] [Abstract][Full Text] [Related]
18. A novel ATP13A2 variant causing complicated hereditary spastic paraplegia. Zhang F; Liu P; Li J; Cen Z; Luo W Neurol Sci; 2024 Apr; 45(4):1749-1753. PubMed ID: 38252374 [TBL] [Abstract][Full Text] [Related]
19. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Brüggemann N; Hagenah J; Reetz K; Schmidt A; Kasten M; Buchmann I; Eckerle S; Bähre M; Münchau A; Djarmati A; van der Vegt J; Siebner H; Binkofski F; Ramirez A; Behrens MI; Klein C Arch Neurol; 2010 Nov; 67(11):1357-63. PubMed ID: 21060012 [TBL] [Abstract][Full Text] [Related]
20. The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms. Park JS; Blair NF; Sue CM Mov Disord; 2015 May; 30(6):770-9. PubMed ID: 25900096 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]