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Items: 1 to 20 of 92

1.

Heterozygosity for a Mendelian disorder as a risk factor for complex disease.

Sidransky E.

Clin Genet. 2006 Oct;70(4):275-82. Review.

PMID:
16965318
2.

Gaucher disease: complexity in a "simple" disorder.

Sidransky E.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review.

PMID:
15464415
3.

Parkinsonism among Gaucher disease carriers.

Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E.

J Med Genet. 2004 Dec;41(12):937-40.

4.

Glucocerebrosidase is shaking up the synucleinopathies.

Siebert M, Sidransky E, Westbroek W.

Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14. Review.

5.

The emergence of Parkinson disease among patients with Gaucher disease.

Elstein D, Alcalay R, Zimran A.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):249-59. doi: 10.1016/j.beem.2014.08.007. Epub 2014 Aug 23. Review.

PMID:
25987177
6.

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.

7.

Gaucher disease: insights from a rare Mendelian disorder.

Sidransky E.

Discov Med. 2012 Oct;14(77):273-81. Review.

8.

Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling.

Rana HQ, Balwani M, Bier L, Alcalay RN.

Genet Med. 2013 Feb;15(2):146-9. doi: 10.1038/gim.2012.107. Epub 2012 Aug 30.

9.

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
10.

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.

11.

The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Zimran A, Neudorfer O, Elstein D.

N Engl J Med. 2005 Feb 17;352(7):728-31; author reply 728-31. No abstract available.

PMID:
15719452
12.

Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.

Jack A, Amato D, Morris G, Choy FY.

Gene. 2014 Mar 15;538(1):84-7. doi: 10.1016/j.gene.2014.01.015. Epub 2014 Jan 13.

PMID:
24434810
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.

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.

Pediatr Res. 2003 Mar;53(3):387-95.

PMID:
12595585
15.

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
16.

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
17.

Finding genes influencing susceptibility to complex diseases in the post-genome era.

Rannala B.

Am J Pharmacogenomics. 2001;1(3):203-21. Review.

PMID:
12083968
18.

Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.

Ribner A, Altarescu G, Zimran A, Elstein D.

Mov Disord. 2011 Jun;26(7):1341-3. doi: 10.1002/mds.23595. Epub 2011 Apr 5.

PMID:
21469198
19.

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
20.

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.

Spataro N, Rodríguez JA, Navarro A, Bosch E.

Hum Mol Genet. 2017 Feb 1;26(3):489-500. doi: 10.1093/hmg/ddw405.

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