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Items: 1 to 20 of 300

1.

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW.

Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13.

2.

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454. Epub 2010 Oct 14.

PMID:
20947659
3.

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.

Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.

4.

Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation.

Fishbein I, Kuo YM, Giasson BI, Nussbaum RL.

Brain. 2014 Dec;137(Pt 12):3235-47. doi: 10.1093/brain/awu291. Epub 2014 Oct 27.

5.

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
6.

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.

7.

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.

Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):149-52. doi: 10.1016/j.ymgme.2011.06.015. Epub 2011 Jun 24.

PMID:
21745757
8.

Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.

Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T, Duran R, Mencacci NE, Sawcer SJ, Barker RA.

Brain. 2013 Feb;136(Pt 2):392-9. doi: 10.1093/brain/aws318.

PMID:
23413260
9.

Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.

Han F, Grimes DA, Li F, Wang T, Yu Z, Song N, Wu S, Racacho L, Bulman DE.

Int J Neurosci. 2016;126(5):415-21. doi: 10.3109/00207454.2015.1023436. Epub 2015 Aug 18.

PMID:
26000814
10.

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.

Li Y, Sekine T, Funayama M, Li L, Yoshino H, Nishioka K, Tomiyama H, Hattori N.

Neurobiol Aging. 2014 Apr;35(4):935.e3-8. doi: 10.1016/j.neurobiolaging.2013.09.019. Epub 2013 Oct 12.

PMID:
24126159
11.

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Crosiers D, Verstraeten A, Wauters E, Engelborghs S, Peeters K, Mattheijssens M, De Deyn PP, Theuns J, Van Broeckhoven C, Cras P.

Neurosci Lett. 2016 Aug 26;629:160-164. doi: 10.1016/j.neulet.2016.07.008. Epub 2016 Jul 7.

PMID:
27397011
12.

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.

Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K.

Neurology. 2007 Sep 18;69(12):1270-7.

13.

Parkinson's disease in patients and obligate carriers of Gaucher disease.

Becker JG, Pastores GM, Di Rocco A, Ferraris M, Graber JJ, Sathe S.

Parkinsonism Relat Disord. 2013 Jan;19(1):129-31. doi: 10.1016/j.parkreldis.2012.06.023. Epub 2012 Aug 31.

PMID:
22940477
14.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG.

N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.

15.

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.

McNeill A, Magalhaes J, Shen C, Chau KY, Hughes D, Mehta A, Foltynie T, Cooper JM, Abramov AY, Gegg M, Schapira AH.

Brain. 2014 May;137(Pt 5):1481-95. doi: 10.1093/brain/awu020. Epub 2014 Feb 25.

16.

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.

Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, Hughes D, Mehta A, Hu MT, Schapira AH, Husain M.

Brain. 2014 Aug;137(Pt 8):2303-11. doi: 10.1093/brain/awu143. Epub 2014 Jun 11.

17.

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.

Choi JM, Kim WC, Lyoo CH, Kang SY, Lee PH, Baik JS, Koh SB, Ma HI, Sohn YH, Lee MS, Kim YJ.

Neurosci Lett. 2012 Apr 11;514(1):12-5. doi: 10.1016/j.neulet.2012.02.035. Epub 2012 Feb 22.

PMID:
22387070
18.

[GBA mutations and Parkinson's disease].

Wang DX, Xie JX, Song N.

Sheng Li Xue Bao. 2018 Jun 25;70(3):294-300. Review. Chinese.

19.

A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.

Thaler A, Gurevich T, Bar Shira A, Gana Weisz M, Ash E, Shiner T, Orr-Urtreger A, Giladi N, Mirelman A.

Parkinsonism Relat Disord. 2017 Mar;36:47-51. doi: 10.1016/j.parkreldis.2016.12.014. Epub 2016 Dec 16.

PMID:
28012950
20.

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.

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