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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Ann Neurol
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2016
विषय:
Research Articles
ऑनलाइन पहुंच: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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