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Results: 1 to 20 of 104

Similar articles for PubMed (Select 23114583)

1.

Gaucher disease: insights from a rare Mendelian disorder.

Sidransky E.

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

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.

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.

4.

Autosomal recessive mutations in the development of Parkinson's disease.

Lopez G, Sidransky E.

Biomark Med. 2010 Oct;4(5):713-21. doi: 10.2217/bmm.10.96. Review.

PMID:
20945983
5.

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.

6.

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
7.

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
8.

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.

9.

Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.

Yang NY, Lee YN, Lee HJ, Kim YS, Lee SJ.

Biol Chem. 2013 Jul;394(7):807-18. doi: 10.1515/hsz-2012-0322. Review.

PMID:
23435096
10.

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.

Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E.

Acta Neuropathol. 2010 Nov;120(5):641-9. doi: 10.1007/s00401-010-0741-7. Epub 2010 Sep 14.

11.

Gaucher disease.

Butters TD.

Curr Opin Chem Biol. 2007 Aug;11(4):412-8. Epub 2007 Jul 23. Review.

PMID:
17644022
12.

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).

Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R.

Epilepsia. 2004 Sep;45(9):1154-7.

PMID:
15329082
13.

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
14.

Parkinsonism, dementia and glucocerebrosidase mutations.

Peall K, Robertson NP.

J Neurol. 2013 May;260(5):1441-4. doi: 10.1007/s00415-013-6923-1. No abstract available.

PMID:
23620067
15.

Mutations causing Gaucher disease.

Horowitz M, Zimran A.

Hum Mutat. 1994;3(1):1-11. Review.

PMID:
8118460
16.

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.

17.

Gaucher and Parkinson diseases: unexpectedly related.

Rogaeva E, Hardy J.

Neurology. 2008 Jun 10;70(24):2272-3. doi: 10.1212/01.wnl.0000314657.92762.0f. No abstract available.

PMID:
18541881
18.

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E.

Mol Genet Metab. 2003 Jun;79(2):104-9.

PMID:
12809640
19.

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
20.

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.

Hum Mutat. 2000;15(2):181-8. Review.

PMID:
10649495
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