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Items: 1 to 20 of 23

1.

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R.

N Engl J Med. 2004 Nov 4;351(19):1972-7.

2.

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D.

Am J Med Genet. 1998 Dec 4;80(4):343-51. Review.

PMID:
9856561
3.

[Etiology and pathogenesis of Parkinson's disease: from mitochondrial dysfunctions to familial Parkinson's disease].

Hattori N.

Rinsho Shinkeigaku. 2004 Apr-May;44(4-5):241-62. Review. Japanese.

PMID:
15287506
4.

The link between the GBA gene and parkinsonism.

Sidransky E, Lopez G.

Lancet Neurol. 2012 Nov;11(11):986-98. doi: 10.1016/S1474-4422(12)70190-4. Review.

5.

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.

Park JK, Koprivica V, Andrews DQ, Madike V, Tayebi N, Stone DL, Sidransky E.

Am J Med Genet. 2001 Mar 1;99(2):147-51. Review.

PMID:
11241475
6.

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Aviner S, Garty BZ, Rachmel A, Baris HN, Sidransky E, Shuffer A, Attias J, Yaniv Y, Cohen IJ.

Blood Cells Mol Dis. 2009 Nov-Dec;43(3):294-7. doi: 10.1016/j.bcmd.2009.08.004. Epub 2009 Sep 5. Review.

7.

The significance of GBA for Parkinson's disease.

Brockmann K, Berg D.

J Inherit Metab Dis. 2014 Jul;37(4):643-8. doi: 10.1007/s10545-014-9714-7. Epub 2014 Jun 4. Review.

PMID:
24894157
8.

Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies.

Mao X, Wang T, Peng R, Chang X, Li N, Gu Y, Zhao D, Liao Q, Liu M.

Neurol Res. 2013 Oct;35(8):873-8. doi: 10.1179/1743132813Y.0000000224. Epub 2013 May 14. Review.

PMID:
23676350
9.

Gaucher disease: gene frequencies and genotype/phenotype correlations.

Grabowski GA.

Genet Test. 1997;1(1):5-12. Review.

PMID:
10464619
10.

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E.

Mov Disord. 2009 Aug 15;24(11):1571-8. doi: 10.1002/mds.22538. Review.

11.

Glucocerebrosidase and Parkinson disease: Recent advances.

Schapira AH.

Mol Cell Neurosci. 2015 May;66(Pt A):37-42. doi: 10.1016/j.mcn.2015.03.013. Epub 2015 Mar 20. Review.

12.

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease.

Beavan MS, Schapira AH.

Ann Med. 2013 Dec;45(8):511-21. doi: 10.3109/07853890.2013.849003. Review.

PMID:
24219755
13.

Niemann-Pick's and Gaucher's diseases.

Stern G.

Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S143-6. doi: 10.1016/S1353-8020(13)70034-8. Review.

PMID:
24262167
14.

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.

Shachar T, Lo Bianco C, Recchia A, Wiessner C, Raas-Rothschild A, Futerman AH.

Mov Disord. 2011 Aug 1;26(9):1593-604. doi: 10.1002/mds.23774. Epub 2011 May 26. Review.

PMID:
21618611
15.

Genetic movement disorders in patients of Jewish ancestry.

Inzelberg R, Hassin-Baer S, Jankovic J.

JAMA Neurol. 2014 Dec;71(12):1567-72. doi: 10.1001/jamaneurol.2014.1364. Review.

PMID:
25347348
16.

The association between ß-glucocerebrosidase mutations and parkinsonism.

Swan M, Saunders-Pullman R.

Curr Neurol Neurosci Rep. 2013 Aug;13(8):368. doi: 10.1007/s11910-013-0368-x. Review.

17.

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M, Anderson DG, Grobler AF.

Neurochem Int. 2016 Feb;93:6-25. doi: 10.1016/j.neuint.2015.12.004. Epub 2015 Dec 30. Review.

PMID:
26743617
18.

The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Velayati A, Yu WH, Sidransky E.

Curr Neurol Neurosci Rep. 2010 May;10(3):190-8. doi: 10.1007/s11910-010-0102-x. Review.

19.

Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.

Kiferle L, Giuntini M, Bonuccelli U, Ceravolo R.

Neurodegener Dis. 2015;15(5):271-80. doi: 10.1159/000433438. Epub 2015 Jul 28. Review.

PMID:
26227893
20.

The enigma of the E326K mutation in acid β-glucocerebrosidase.

Horowitz M, Pasmanik-Chor M, Ron I, Kolodny EH.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):35-8. doi: 10.1016/j.ymgme.2011.07.002. Epub 2011 Jul 12. Review.

PMID:
21831682
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