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7. ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease. Suleiman J; Hamwi N; El-Hattab AW Brain Dev; 2018 Oct; 40(9):824-826. PubMed ID: 29903538 [TBL] [Abstract][Full Text] [Related]
8. Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. Inzelberg R; Estrada-Cuzcano A; Laitman Y; De Vriendt E; Friedman E; Jordanova A J Parkinsons Dis; 2018; 8(3):399-403. PubMed ID: 29966207 [TBL] [Abstract][Full Text] [Related]
9. [Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism]. He D; Guo JF; Wang L; Xiao ZQ; Nie LL; Zhang XW; Tang BS Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):567-70. PubMed ID: 19806583 [TBL] [Abstract][Full Text] [Related]
10. Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice. Sato S; Koike M; Funayama M; Ezaki J; Fukuda T; Ueno T; Uchiyama Y; Hattori N Am J Pathol; 2016 Dec; 186(12):3074-3082. PubMed ID: 27770614 [TBL] [Abstract][Full Text] [Related]
12. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Park JS; Mehta P; Cooper AA; Veivers D; Heimbach A; Stiller B; Kubisch C; Fung VS; Krainc D; Mackay-Sim A; Sue CM Hum Mutat; 2011 Aug; 32(8):956-64. PubMed ID: 21542062 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Kruer MC; Paudel R; Wagoner W; Sanford L; Kara E; Gregory A; Foltynie T; Lees A; Bhatia K; Hardy J; Hayflick SJ; Houlden H Neurosci Lett; 2012 Aug; 523(1):35-8. PubMed ID: 22743658 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function. Demirsoy S; Martin S; Motamedi S; van Veen S; Holemans T; Van den Haute C; Jordanova A; Baekelandt V; Vangheluwe P; Agostinis P Hum Mol Genet; 2017 May; 26(9):1656-1669. PubMed ID: 28334751 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]