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Items: 1 to 20 of 95

1.

PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.

Ning YP, Kanai K, Tomiyama H, Li Y, Funayama M, Yoshino H, Sato S, Asahina M, Kuwabara S, Takeda A, Hattori T, Mizuno Y, Hattori N.

Neurology. 2008 Apr 15;70(16 Pt 2):1491-3. doi: 10.1212/01.wnl.0000310427.72236.68. No abstract available.

PMID:
18413573
2.

[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. doi: 10.3760/cma.j.issn.1003-9406.2009.05.020. Chinese.

PMID:
19806583
3.

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network, Bonifati V.

Neurology. 2007 May 8;68(19):1557-62.

PMID:
17485642
4.

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. doi: 10.1001/archneurol.2010.281.

PMID:
21060012
5.

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. doi: 10.1016/j.parkreldis.2015.09.036. Epub 2015 Sep 25. No abstract available.

PMID:
26421390
6.

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.

Fong CY, Rolfs A, Schwarzbraun T, Klein C, O'Callaghan FJ.

Eur J Paediatr Neurol. 2011 May;15(3):271-5. doi: 10.1016/j.ejpn.2011.01.001. Epub 2011 Feb 12.

PMID:
21316993
7.

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. doi: 10.1002/humu.21527. Epub 2011 Jul 12.

PMID:
21542062
8.

A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism.

Wang L, Guo JF, Nie LL, Zhang HN, Shen L, Jiang H, Pan Q, Xia K, Tang BS, Yan XX.

Chin Med J (Engl). 2009 Dec 20;122(24):3082-5. No abstract available.

PMID:
20137506
9.

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C.

Nat Genet. 2006 Oct;38(10):1184-91. Epub 2006 Sep 10.

PMID:
16964263
10.

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21.

11.

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.

Lin CH, Tan EK, Chen ML, Tan LC, Lim HQ, Chen GS, Wu RM.

Neurology. 2008 Nov 18;71(21):1727-32. doi: 10.1212/01.wnl.0000335167.72412.68.

PMID:
19015489
12.

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. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31.

PMID:
22296644
13.

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.

Crosiers D, Ceulemans B, Meeus B, Nuytemans K, Pals P, Van Broeckhoven C, Cras P, Theuns J.

Parkinsonism Relat Disord. 2011 Feb;17(2):135-8. doi: 10.1016/j.parkreldis.2010.10.011. Epub 2010 Nov 20. No abstract available.

PMID:
21094623
14.

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. doi: 10.1371/journal.pone.0039942. Epub 2012 Jun 29.

15.

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE.

Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18.

PMID:
21696388
16.

Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation.

Lees AJ, Singleton AB.

Neurology. 2007 May 8;68(19):1553-4. No abstract available.

PMID:
17485640
17.

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

Machner B, Sprenger A, Behrens MI, Ramirez A, Brüggemann N, Klein C, Helmchen C.

Mov Disord. 2010 Nov 15;25(15):2687-9. doi: 10.1002/mds.23352. No abstract available.

PMID:
20842691
18.

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 8;523(1):35-8. doi: 10.1016/j.neulet.2012.06.036. Epub 2012 Jun 25.

19.

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Yang X, Xu Y.

Biomed Res Int. 2014;2014:371256. doi: 10.1155/2014/371256. Epub 2014 Aug 14. Review.

20.

Response to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.

McNeill A.

Mov Disord. 2010 Oct 15;25(13):2253. doi: 10.1002/mds.23224. No abstract available.

PMID:
20740487

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