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Journal Abstract Search

100 related items for PubMed ID: 23630171

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  • 3. 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
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  • 4. 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 Aug; 8(3):399-403. PubMed ID: 29966207
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  • 8. 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
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  • 11. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
    Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H.
    Mov Disord; 2010 Sep 15; 25(12):1791-800. PubMed ID: 20669327
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  • 14. 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 15; 33(8):1843.e1-7. PubMed ID: 22296644
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  • 15. 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 15; 32(8):956-64. PubMed ID: 21542062
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