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

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‐neuropathic GD mutations confer intermedia...

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Xehetasun bibliografikoak
Argitaratua izan da:Ann Neurol
Egile Nagusiak: Liu, Ganqiang, Boot, Brendon, Locascio, Joseph J., Jansen, Iris E., Winder‐Rhodes, Sophie, Eberly, Shirley, Elbaz, Alexis, Brice, Alexis, Ravina, Bernard, van Hilten, Jacobus J., Cormier‐Dequaire, Florence, Corvol, Jean‐Christophe, Barker, Roger A., Heutink, Peter, Marinus, Johan, Williams‐Gray, Caroline H., Scherzer, Clemens 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., Breen, D., Cummins, G., Evans, J., 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., Duong, K., Dong, X., Hutten, S.J., Amr, S.S., Shoulson, I., Tanner, C.M., Lang, A.E., Nalls, M.A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2016
Gaiak:
Research Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5244667/
https://ncbi.nlm.nih.gov/pubmed/27717005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24781
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