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Results: 10

1.

The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.

Chan AY, Baum L, Tang NL, Lau CY, Ng PW, Hui KF, Mizuno Y, Kwan JY, Mok VC, Kuo SH.

J Clin Neurosci. 2013 May;20(5):761-2. doi: 10.1016/j.jocn.2012.05.052. Epub 2013 Mar 20.

PMID:
23522931
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.

Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, Funayama M, Ito H, Taniguchi Y, Uemura N, Toyoda A, Sakaki Y, Takeda S, Uchiyama Y, Hattori N, Takahashi R.

FEBS Lett. 2013 May 2;587(9):1316-25. doi: 10.1016/j.febslet.2013.02.046. Epub 2013 Mar 13.

PMID:
23499937
[PubMed - indexed for MEDLINE]
Free Article
3.

Neurodegeneration with Brain Iron Accumulation Disorders Overview.

Gregory A, Hayflick S.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2013 Feb 28 [updated 2014 Apr 24].

4.

Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake.

De La Hera DP, Corradi GR, Adamo HP, De Tezanos Pinto F.

Biochem J. 2013 Feb 15;450(1):47-53. doi: 10.1042/BJ20120739.

PMID:
23205587
[PubMed - indexed for MEDLINE]
Free Article
5.

Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.

Lai HJ, Lin CH, Wu RM.

Acta Neurol Taiwan. 2012 Sep;21(3):99-107. Review.

PMID:
23196729
[PubMed - indexed for MEDLINE]
Free Article
6.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2001 Oct 10 [updated 2013 Aug 01].

7.

Parkinson Disease Overview.

Farlow J, Pankratz ND, Wojcieszek J, Foroud T.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2004 May 25 [updated 2014 Feb 27].

8.

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
[PubMed - indexed for MEDLINE]
9.

Characterization of the P5 subfamily of P-type transport ATPases in mice.

Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE.

Biochem Biophys Res Commun. 2004 Oct 22;323(3):731-8.

PMID:
15381061
[PubMed - indexed for MEDLINE]
10.

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG.

J Med Genet. 2001 Oct;38(10):680-2.

PMID:
11584046
[PubMed - indexed for MEDLINE]
Free PMC Article

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