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Results: 1 to 20 of 148

1.

Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.

Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A.

Am J Hematol. 2013 Mar;88(3):179-84. doi: 10.1002/ajh.23382. Epub 2013 Feb 9. Erratum in: Am J Hematol. 2013 Jul;88(7):632.

PMID:
23400823
[PubMed - indexed for MEDLINE]
2.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB.

Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17.

PMID:
23332917
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G.

Am J Hum Genet. 2013 Feb 7;92(2):238-44. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17.

PMID:
23332916
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones.

Yang C, Rahimpour S, Lu J, Pacak K, Ikejiri B, Brady RO, Zhuang Z.

Proc Natl Acad Sci U S A. 2013 Jan 15;110(3):966-71. doi: 10.1073/pnas.1221046110. Epub 2012 Dec 31.

PMID:
23277556
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Guerrero-López R, García-Ruiz PJ, Giráldez BG, Durán-Herrera C, Querol-Pascual MR, Ramírez-Moreno JM, Más S, Serratosa JM.

Mov Disord. 2012 Dec;27(14):1826-7. doi: 10.1002/mds.25114. Epub 2012 Dec 5. No abstract available.

PMID:
23225201
[PubMed - indexed for MEDLINE]
6.

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease.

Zimran A, Altarescu G, Elstein D.

Blood Cells Mol Dis. 2013 Feb;50(2):134-7. doi: 10.1016/j.bcmd.2012.09.006. Epub 2012 Oct 22.

PMID:
23085429
[PubMed - indexed for MEDLINE]
7.

A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers.

McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH.

J Neurol Neurosurg Psychiatry. 2012 Aug;83(8):853-4. doi: 10.1136/jnnp-2012-302402. Epub 2012 May 10. No abstract available.

PMID:
22577228
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK.

Am J Hematol. 2012 Apr;87(4):377-83. doi: 10.1002/ajh.23118. Epub 2012 Mar 3.

PMID:
22388998
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease.

Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Muñoz ET, Solorio-Meza SE, Amato D, Duran G, Giona F, Heitner R, Rosenbaum H, Giraldo P, Mehta A, Park G, Phillips M, Elstein D, Altarescu G, Szleifer M, Hashmueli S, Aviezer D.

Blood. 2011 Nov 24;118(22):5767-73. doi: 10.1182/blood-2011-07-366955. Epub 2011 Sep 6. Erratum in: Blood. 2012 May 10;119(19):4577.

PMID:
21900191
[PubMed - indexed for MEDLINE]
Free Article
10.

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H, Helena Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G.

Am J Hematol. 2011 Jan;86(1):110-5. doi: 10.1002/ajh.21888.

PMID:
21080341
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A monozygotic twin pair with highly discordant Gaucher phenotypes.

Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE.

Blood Cells Mol Dis. 2011 Jan 15;46(1):39-41. doi: 10.1016/j.bcmd.2010.10.007. Epub 2010 Nov 5.

PMID:
21056933
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A.

Mol Genet Metab. 2011 Feb;102(2):226-8. doi: 10.1016/j.ymgme.2010.10.004. Epub 2010 Oct 29.

PMID:
21036086
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
20838799
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study.

Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Kamath RS, Rosenthal DI, Kaper M, Singh T, Puga AC, Peterschmitt MJ.

Blood. 2010 Nov 18;116(20):4095-8. doi: 10.1182/blood-2010-06-293902. Epub 2010 Aug 16. Erratum in: Blood. 2011 May 19;117(20):5551.

PMID:
20713962
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2010 Dec;33(6):769-74. doi: 10.1007/s10545-010-9175-6. Epub 2010 Aug 4.

PMID:
20683668
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.

de Siqueira LF.

J Neurol. 2010 Oct;257(10):1612-9. doi: 10.1007/s00415-010-5641-1. Epub 2010 Jul 1. Review.

PMID:
20593193
[PubMed - indexed for MEDLINE]
17.

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

Lukina E, Watman N, Arreguin EA, Banikazemi M, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Rosenthal DI, Kaper M, Singh T, Puga AC, Bonate PL, Peterschmitt MJ.

Blood. 2010 Aug 12;116(6):893-9. doi: 10.1182/blood-2010-03-273151. Epub 2010 May 3.

PMID:
20439622
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience.

Zimran A, Altarescu G, Philips M, Attias D, Jmoudiak M, Deeb M, Wang N, Bhirangi K, Cohn GM, Elstein D.

Blood. 2010 Jun 10;115(23):4651-6. doi: 10.1182/blood-2010-02-268649. Epub 2010 Mar 18.

PMID:
20299511
[PubMed - indexed for MEDLINE]
Free Article
19.

The risk of Parkinson's disease in type 1 Gaucher disease.

Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Apr;33(2):167-73. doi: 10.1007/s10545-010-9055-0. Epub 2010 Feb 23.

PMID:
20177787
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A validated disease severity scoring system for adults with type 1 Gaucher disease.

Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A.

Genet Med. 2010 Jan;12(1):44-51. doi: 10.1097/GIM.0b013e3181c39194.

PMID:
20027115
[PubMed - indexed for MEDLINE]

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