1 | GBA, PARK24
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| Neuropsychiatric characteristics of GBA-associated Parkinson disease.
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| Swan M, Doan N, Ortega RA, Barrett M, Nichols W, Ozelius L, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R.
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| J Neurol Sci 370:63-69. doi: 10.1016/j.jns.2016.08.059. Epub 2016 Aug 30.
2016
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2 | GBA, PARK24
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| Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
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| Cilia R, Tunesi S, Marotta G, Cereda E, Siri C, Tesei S, Zecchinelli AL, Canesi M, Mariani CB, Meucci N, Sacilotto G, Zini M, Barichella M, Magnani C, Duga S, Asselta R, Soldà G, Seresini A, Seia M, Pezzoli G, Goldwurm S.
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| Ann Neurol 80(5):662-673. doi: 10.1002/ana.24777. Epub 2016 Oct 3.
2016
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3 | GBA, PARK24
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| Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
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| Magalhaes J, Gegg ME, Migdalska-Richards A, Doherty MK, Whitfield PD, Schapira AH.
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| Hum Mol Genet 25(16):3432-3445. doi: 10.1093/hmg/ddw185. Epub 2016 Jul 4.
2016
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4 | GBA, PARK24
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| Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
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| Ortega RA, Torres PA, Swan M, Nichols W, Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker V, Hunt AL, Bressman S, Pastores GM, Saunders-Pullman R.
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| J Clin Neurosci 28:185-6. doi: 10.1016/j.jocn.2015.12.004. Epub 2016 Feb 5.
2016
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5 | GBA, GBA1, GBA2, GBA3, PARK24
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| Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
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| Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.
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| Brain 138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.
2015
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6 | DLB2, GBA, PARK24
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| Association of glucocerebrosidase mutations with dementia with lewy bodies.
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| 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.
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| Arch Neurol 66(5):578-83. 2009
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7 | GBA, PARK24
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| Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
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| 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 Marco EV, 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, Lang AE, 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.
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| N Engl J Med 361(17):1651-61. 2009
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8 | GBA, PARK24
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| Mutations for Gaucher disease confer high susceptibility to Parkinson disease.
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| 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.
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| Arch Neurol 66(5):571-6. 2009
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9 | GBA, PARK24
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| Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
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| 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.
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| Neurology 72(4):310-6. Epub 2008 Nov 5. 2009
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10 | GBA, PARK24
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| Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.
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| Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A.
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| Neurology 70(24):2277-83. Epub 2008 Apr 23. 2008
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11 | GBA, PARK24
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| Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
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| 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.
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| Neurology 69(12):1270-7. 2007
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