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Items: 1 to 20 of 103

1.

Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

Chahine LM, Qiang J, Ashbridge E, Minger J, Yearout D, Horn S, Colcher A, Hurtig HI, Lee VM, Van Deerlin VM, Leverenz JB, Siderowf AD, Trojanowski JQ, Zabetian CP, Chen-Plotkin A.

JAMA Neurol. 2013 Jul;70(7):852-8. doi: 10.1001/jamaneurol.2013.1274.

2.

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.

Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A.

Neurology. 2008 Jun 10;70(24):2277-83. doi: 10.1212/01.wnl.0000304039.11891.29. Epub 2008 Apr 23.

PMID:
18434642
3.

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M-, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K.

Neurology. 2012 May 1;78(18):1434-40. doi: 10.1212/WNL.0b013e318253d54b. Epub 2012 Mar 21.

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.

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
6.

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
7.

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Ross BM, Verbitsky M, Kisselev S, Louis ED, Comella C, Colcher A, Jennings D, Nance MA, Bressman SB, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Ottman R, Marder K, Clark LN.

Arch Neurol. 2010 Sep;67(9):1116-22. doi: 10.1001/archneurol.2010.194.

8.

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.

Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M, Nichols W, Rana HQ, Balwani M, Bier L, Elstein D, Zimran A.

JAMA Neurol. 2014 Jun;71(6):752-7. doi: 10.1001/jamaneurol.2014.313.

9.

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
10.

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators.

Neurology. 2009 Jan 27;72(4):310-6. doi: 10.1212/01.wnl.0000327823.81237.d1. Epub 2008 Nov 5.

11.

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
12.

Differential effects of severe vs mild GBA mutations on Parkinson disease.

Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A.

Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4.

13.

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

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

Neurology. 2005 Nov 8;65(9):1460-1. Epub 2005 Sep 7.

PMID:
16148263
14.

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
15.

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
16.

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
17.

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH.

JAMA Neurol. 2015 Feb;72(2):201-8. doi: 10.1001/jamaneurol.2014.2950.

18.

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.

Wu YR, Chen CM, Chao CY, Ro LS, Lyu RK, Chang KH, Lee-Chen GJ.

J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):977-9.

19.

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Anheim M, Elbaz A, Lesage S, Durr A, Condroyer C, Viallet F, Pollak P, Bonaïti B, Bonaïti-Pellié C, Brice A; French Parkinson Disease Genetic Group.

Neurology. 2012 Feb 7;78(6):417-20. doi: 10.1212/WNL.0b013e318245f476. Epub 2012 Jan 25.

PMID:
22282650
20.

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.

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