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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2008 | 1 |
2013 | 1 |
2016 | 1 |
2024 | 0 |
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Page 1
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9415-20. doi: 10.1073/pnas.0803756105. Epub 2008 Jun 30.
Proc Natl Acad Sci U S A. 2008.
PMID: 18591654
Free PMC article.
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C.
Krebs CE, et al.
Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.
Hum Mutat. 2013.
PMID: 23804563
Free PMC article.
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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S.
Hardies K, et al.
Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19.
Brain. 2016.
PMID: 27435091
Free PMC article.
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