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Links from Protein

Items: 10

1.

Comprehensive investigation of aberrant microRNAs expression in cells culture model of MnCl2-induced neurodegenerative disease.

He R, Xie X, Lv L, Huang Y, Xia X, Chen X, Zhang L.

Biochem Biophys Res Commun. 2017 Apr 29;486(2):342-348. doi: 10.1016/j.bbrc.2017.03.041. Epub 2017 Mar 14.

PMID:
28302480
2.

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(Pt 2):287-305. doi: 10.1093/brain/aww307.

PMID:
28137957
3.

High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts.

Murthy MN, Veerappa AM, Seshachalam KB, Ramachandra NB.

Neurol Res. 2016 Sep;38(9):775-85. doi: 10.1080/01616412.2016.1204105. Epub 2016 Jul 11.

PMID:
27399248
4.

Neurodegeneration with Brain Iron Accumulation Disorders Overview.

Gregory A, Hayflick S.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Feb 28 [updated 2014 Apr 24].

5.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Oct 10 [updated 2013 Aug 1].

6.

Parkinson Disease Overview.

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

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 May 25 [updated 2014 Feb 27].

7.

Hereditary Dystonia Overview.

Klein C, Lohmann K, Marras C, Münchau A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. No abstract available.
2003 Oct 28 [updated 2017 Jun 22].

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
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
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.

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