Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in theglucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2004 Nov 4;351(19):1972-7.
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G,Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Enzymereplacement therapy and monitoring for children with type 1 Gaucher disease:consensus recommendations. J Pediatr. 2004 Jan;144(1):112-20. Review.
Clark LN, Kartsaklis LA, Wolf Gilbert R, Dorado B, Ross BM, Kisselev S,Verbitsky M, Mejia-Santana H, Cote LJ, Andrews H, Vonsattel JP, Fahn S, Mayeux R,Honig LS, Marder K. Association of glucocerebrosidase mutations with dementiawith lewy bodies. Arch Neurol. 2009 May;66(5):578-83. doi:10.1001/archneurol.2009.54.
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. Mutations inthe glucocerebrosidase gene are associated with early-onset Parkinson disease.Neurology. 2007 Sep 18;69(12):1270-7.
Germain DP. Gaucher's disease: a paradigm for interventional genetics. ClinGenet. 2004 Feb;65(2):77-86. Review.
Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E. Glucocerebrosidase mutations are an important risk factor forLewy body disorders. Neurology. 2006 Sep 12;67(5):908-10.
Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modernmanagement. Br J Haematol. 2005 Apr;129(2):178-88. Review.
Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, SchellenbergGD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol. 2008Mar;65(3):379-82. doi: 10.1001/archneurol.2007.68.
Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C,Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, HarrisJ, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, RogaevaE, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N,Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI,Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, SingletonAB, Wolfsberg TG, Sidransky E. A multicenter study of glucocerebrosidasemutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun;70(6):727-35. doi: 10.1001/jamaneurol.2013.1925.
Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E. The identification of eight novel glucocerebrosidase (GBA)mutations in patients with Gaucher disease. Hum Mutat. 2002 Apr;19(4):458-9.
Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, Sidransky E, Schiffmann R,Futerman AH. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis. 2005 Feb;18(1):83-8.
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER,Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De MarcoEV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T,Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, LangAE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I,Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A,Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C,Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S,Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenteranalysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med.2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol GenetMetab. 2004 Sep-Oct;83(1-2):6-15. Review.
Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor forcomplex disease. Clin Genet. 2006 Oct;70(4):275-82. Review.
Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA,Buchman AS, Larson EB, Crane PK, Kaye JA, Kramer P, Woltjer R, Kukull W, NelsonPT, Jicha GA, Neltner JH, Galasko D, Masliah E, Trojanowski JQ, Schellenberg GD, Yearout D, Huston H, Fritts-Penniman A, Mata IF, Wan JY, Edwards KL, Montine TJ, Zabetian CP. GBA mutations increase risk for Lewy body disease with and withoutAlzheimer disease pathology. Neurology. 2012 Nov 6;79(19):1944-50. doi:10.1212/WNL.0b013e3182735e9a.
Velayati A, Yu WH, Sidransky E. The role of glucocerebrosidase mutations inParkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep. 2010May;10(3):190-8. doi: 10.1007/s11910-010-0102-x. Review.
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