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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
1996 1
1997 5
1998 1
1999 2
2000 6
2001 2
2002 3
2003 2
2004 5
2005 3
2006 2
2007 1
2008 3
2009 1
2011 2
2012 3
2013 3
2014 7
2015 3
2016 4
2017 6
2018 7
2019 4
2020 4
2021 8
2022 7
2023 3
2024 1

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PubMed for id: 8867

97 results

Results by year

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Page 1
The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.
Ando K, Ndjim M, Turbant S, Fontaine G, Pregoni G, Dauphinot L, Yilmaz Z, Suain V, Mansour S, Authelet M, De Dekker R, Leroy K, Delatour B; Brain Bank NeuroCEB Neuropathology Network; Duyckaerts C, Potier MC, Brion JP. Ando K, et al. Acta Neuropathol Commun. 2020 Jun 3;8(1):79. doi: 10.1186/s40478-020-00954-1. Acta Neuropathol Commun. 2020. PMID: 32493451 Free PMC article.
Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.
Rodríguez-López J, Sobrino B, Amigo J, Carrera N, Brenlla J, Agra S, Paz E, Carracedo Á, Páramo M, Arrojo M, Costas J. Rodríguez-López J, et al. Eur Arch Psychiatry Clin Neurosci. 2018 Sep;268(6):585-592. doi: 10.1007/s00406-017-0799-5. Epub 2017 Apr 18. Eur Arch Psychiatry Clin Neurosci. 2018. PMID: 28421333
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.
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappatà S, Quarantelli M, Barone P, De Michele G, Bonifati V. Olgiati S, et al. Neurogenetics. 2014 Aug;15(3):183-8. doi: 10.1007/s10048-014-0406-0. Epub 2014 May 10. Neurogenetics. 2014. PMID: 24816432
97 results