Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Autor: Liu, Ganqiang, Boot, Brendon, Cormier-Dequaire, Florence, Corvol, Jean-Christophe, Barker, Roger A, Heutink, Peter, Marinus, Johan, Williams-Gray, Caroline H, Scherzer, Clemens R, Progression, International Genetics of Parkinson Disease, Scherzer, C., Hyman, B. T., Locascio, Joseph J, Ivinson, A. J., Trisini-Lipsanopoulos, A., Franco, D., Burke, K., Sudarsky, L. R., Hayes, M. T., Umeh, C. C., Growdon, J. H., Schwarzschild, M. A., Hung, A. Y., Jansen, Iris E, Flaherty, A. W., Wills, A-M, Mejia, N. I., Gomperts, S. N., Khurana, V., Selkoe, D. J., Yi, T., Page, K., Liao, Z., Barker, R., Winder-Rhodes, Sophie, Foltynie, T., Williams-Gray, C. H., Mason, S., Winder-Rhodes, S., Breen, D., Cummins, G., Evans, J., Eberly, Shirley, Corvol, J-C, Brice, A., Elbaz, A., Mallet, A., Vidailhet, M., Bonnet, A-M, Bonnet, C., Grabli, D., Hartmann, A., Klebe, S., Elbaz, Alexis, Lacomblez, L., Mangone, G., Bourdain, F., Brandel, J-P, Derkinderen, P., Durif, F., Mesnage, V., Pico, F., Rascol, O., Forlani, S., Brice, Alexis, Lesage, S., Tahiri, K., van Hilten, J. J., Marinus, J., Duong, K., Ravina, Bernard, Dong, X., Hutten, S. J., Amr, S. S., Shoulson, I., Tanner, C. M., Lang, A. E., Nalls, M. A., van Hilten, Jacobus J

Publikováno v: Annals of Neurology, 80(5), 674-685. John Wiley and Sons Inc.
Annals of Neurology
Annals of Neurology, Wiley, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Liu, G, Boot, B, Locascio, J J, Jansen, I E, Winder-Rhodes, S, Eberly, S, Elbaz, A, Brice, A, Ravina, B, van Hilten, J J, Cormier-Dequaire, F, Corvol, J C, Barker, R A, Heutink, P, Marinus, J, Williams-Gray, C H, Scherzer, C R, Scherzer, C, Hyman, B T, Ivinson, A J, Trisini-Lipsanopoulos, A, Franco, D, Burke, K, Sudarsky, L R, Hayes, M T, Umeh, C C, Growdon, J H, Schwarzschild, M A, Hung, A Y, Flaherty, A W, Wills, A M, Mejia, N I, Gomperts, S N, Khurana, V, Selkoe, D J, Yi, T, Page, K, Liao, Z, Barker, R, Foltynie, T, Williams-Gray, C H, Mason, S, Winder-Rhodes, S, Barker, R, Williams-Gray, C H, Breen, D, Cummins, G, Evans, J, Winder-Rhodes, S, Corvol, J C, Brice, A, Elbaz, A, Mallet, A, Vidailhet, M, Bonnet, A M, Bonnet, C, Grabli, D, Hartmann, A, Klebe, S, Lacomblez, L, Mangone, G, Bourdain, F, Brandel, J P, Derkinderen, P, Durif, F, Mesnage, V, Pico, F, Rascol, O, Forlani, S, Lesage, S, Tahiri, K, van Hilten, J J, Marinus, J, Liao, Z, Page, K, Franco, D, Duong, K, Yi, T, Trisini-Lipsanopoulos, A, Dong, X, Sudarsky, L R, Hutten, S J, Amr, S S, Shoulson, I, Tanner, C M, Lang, A E & Nalls, M A 2016, ' Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's ', Annals of Neurology, vol. 80, no. 5, pp. 674-685 . https://doi.org/10.1002/ana.24781
Annals of neurology 80(5), 674-685 (2016). doi:10.1002/ana.24781
Annals of Neurology, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Annals of Neurology, 80(5), 674-685
2016, ' Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's ', Annals of Neurology, vol. 80, no. 5, pp. 674-685 . https://doi.org/10.1002/ana.24781

OBJECTIVE: We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-n

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