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Items: 1 to 20 of 126

1.

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

Dos Santos AV, Pestana CP, Diniz KR, Campos M, Abdalla-Carvalho CB, de Rosso AL, Pereira JS, Nicaretta DH, de Carvalho WL, Dos Santos JM, Santos-Rebouças CB, Pimentel MM.

Neurosci Lett. 2010 Nov 19;485(2):121-4. doi: 10.1016/j.neulet.2010.08.083. Epub 2010 Sep 17.

PMID:
20816920
2.

Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.

Sato S, Li Y, Hattori N.

J Neural Transm (Vienna). 2017 Nov;124(11):1395-1400. doi: 10.1007/s00702-017-1779-7. Epub 2017 Sep 11. Review.

PMID:
28894968
3.

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.

Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E.

Parkinsonism Relat Disord. 2008;14(1):58-62. Epub 2007 Aug 20.

PMID:
17703984
4.

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.

5.

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
6.

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.

7.
8.

Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.

Gan-Or Z, Bar-Shira A, Gurevich T, Giladi N, Orr-Urtreger A.

Neurogenetics. 2011 Nov;12(4):325-32. doi: 10.1007/s10048-011-0293-6. Epub 2011 Aug 12.

PMID:
21837367
9.

Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.

Zhao F, Bi L, Wang W, Wu X, Li Y, Gong F, Lu S, Feng F, Qian Z, Hu C, Wu Y, Sun Y.

Neuroscience. 2016 Apr 21;320:239-46. doi: 10.1016/j.neuroscience.2016.02.007. Epub 2016 Feb 8.

PMID:
26868973
10.

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan.

Huang CL, Wu-Chou YH, Lai SC, Chang HC, Yeh TH, Weng YH, Chen RS, Huang YZ, Lu CS.

Eur J Neurol. 2011 Oct;18(10):1227-32. doi: 10.1111/j.1468-1331.2011.03362.x. Epub 2011 Feb 22.

PMID:
21338444
11.

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.

Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L.

Neurosci Lett. 2009 Mar 13;452(2):87-9. doi: 10.1016/j.neulet.2009.01.029. Epub 2009 Jan 15.

PMID:
19383421
12.

Glucocerebrosidase mutations in Thai patients with Parkinson's disease.

Pulkes T, Choubtum L, Chitphuk S, Thakkinstian A, Pongpakdee S, Kulkantrakorn K, Hanchaiphiboolkul S, Tiamkao S, Boonkongchuen P.

Parkinsonism Relat Disord. 2014 Sep;20(9):986-91. doi: 10.1016/j.parkreldis.2014.06.007. Epub 2014 Jun 23.

PMID:
24997549
13.

Analysis of the glucocerebrosidase gene in Parkinson's disease.

Sato C, Morgan A, Lang AE, Salehi-Rad S, Kawarai T, Meng Y, Ray PN, Farrer LA, St George-Hyslop P, Rogaeva E.

Mov Disord. 2005 Mar;20(3):367-70.

PMID:
15517592
14.

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.

Yu Z, Wang T, Xu J, Wang W, Wang G, Chen C, Zheng L, Pan L, Gong D, Li X, Qu H, Li F, Zhang B, Le W, Han F.

J Hum Genet. 2015 Feb;60(2):85-90. doi: 10.1038/jhg.2014.110. Epub 2014 Dec 18.

PMID:
25518742
15.

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
16.

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
17.

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.

18.

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
19.

Mutations for Gaucher disease confer high susceptibility to Parkinson disease.

Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S.

Arch Neurol. 2009 May;66(5):571-6. doi: 10.1001/archneurol.2009.72.

PMID:
19433656
20.

An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.

Török R, Zádori D, Török N, Csility É, Vécsei L, Klivényi P.

Neurosci Lett. 2016 Jan 1;610:135-8. doi: 10.1016/j.neulet.2015.11.001. Epub 2015 Nov 4.

PMID:
26547032

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