SMPD1 mutations, activity and α-synuclein accumulation in Parkinson’s disease

BACKGROUND: SMPD1 (acid-sphingomyelinase, ASMase) variants have been associated with Parkinson’s disease (PD) in recent studies. OBJECTIVE: To further study the role of SMPD1 mutations in PD. METHODS: SMPD1 was sequenced in three cohorts (Israel Ashkenazi-Jewish cohort, Montreal/Montpellier and New...

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Vydáno v:Mov Disord
Hlavní autoři: Alcalay, Roy N., Mallett, Victoria, Vanderperre, Benoît, Tavassoly, Omid, Dauvilliers, Yves, Wu, Richard Y.J., Ruskey, Jennifer A., Leblond, Claire S., Ambalavanan, Amirthagowri, Laurent, Sandra B., Spiegelman, Dan, Dionne-Laporte, Alexandre, Liong, Christopher, Levy, Oren A., Fahn, Stanley, Waters, Cheryl, Kuo, Sheng-Han, Chung, Wendy K., Ford, Blair, Marder, Karen S., Kang, Un Jung, Hassin-Baer, Sharon, Greenbaum, Lior, Trempe, Jean-Francois, Wolf, Pavlina, Oliva, Petra, Zhang, Xiaokui Kate, Clark, Lorraine N., Langlois, Melanie, Dion, Patrick A., Fon, Edward A., Dupre, Nicolas, Rouleau, Guy A., Gan-Or, Ziv
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6469643/
https://ncbi.nlm.nih.gov/pubmed/30788890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.27642
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