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Items: 17

1.
Downregulated LRRK2 gene expression inhibits proliferation and migration while promoting the apoptosis of thyroid cancer cells by inhibiting activation of the JNK signaling pathway
Zheng-Cai Jiang, Xiao-Jun Chen, Qi Zhou, Xiao-Hua Gong, Xiong Chen, Wen-Jun Wu
Int J Oncol. 2019 Jul; 55(1): 21–34. Published online 2019 May 29. doi: 10.3892/ijo.2019.4816
PMCID:
PMC6561619
AbstractArticlePDF–2.1M
2.
Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes
Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe, Ilo Jou
Acta Neuropathol Commun. 2019; 7: 68. Published online 2019 May 2. doi: 10.1186/s40478-019-0716-4
PMCID:
PMC6498585
AbstractArticlePDF–6.9M
3.
The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval
Alexander Zimprich, Bertram Müller-Myhsok, Matthew Farrer, Petra Leitner, Manu Sharma, Mary Hulihan, Paul Lockhart, Audrey Strongosky, Jennifer Kachergus, Donald B. Calne, Jon Stoessl, Ryan J. Uitti, Ronald F. Pfeiffer, Claudia Trenkwalder, Nikolaus Homann, Erwin Ott, Karoline Wenzel, Friedrich Asmus, John Hardy, Zbigniew Wszolek, Thomas Gasser
Am J Hum Genet. 2004 Jan; 74(1): 11–19. Published online 2003 Dec 19. doi: 10.1086/380647
Correction in:
Am J Hum Genet. 2004 Sep; 75(3): 534.
PMCID:
PMC1181898
AbstractArticlePDF–222K
4.
Identifying novel transcripts and novel genes in the human genome by using novel SAGE tags
Jianjun Chen, Miao Sun, Sanggyu Lee, Guolin Zhou, Janet D. Rowley, San Ming Wang
Proc Natl Acad Sci U S A. 2002 Sep 17; 99(19): 12257–12262. Published online 2002 Sep 4. doi: 10.1073/pnas.192436499
PMCID:
PMC129432
AbstractArticlePDF–151K
5.
The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials
Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar
Front Genet. 2019; 10: 1061. Published online 2019 Oct 31. doi: 10.3389/fgene.2019.01061
PMCID:
PMC6837163
AbstractArticlePDF–1.3M
6.
Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism – a case report
Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási, Maria Judit Molnar
BMC Neurol. 2019; 19: 260. Published online 2019 Oct 28. doi: 10.1186/s12883-019-1496-y
PMCID:
PMC6816197
AbstractArticlePDF–2.4M
7.
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes
Miriam Ciani, Cristian Bonvicini, Catia Scassellati, Matteo Carrara, Carlo Maj, Silvia Fostinelli, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi
Int J Mol Sci. 2019 Aug; 20(16): 3903. Published online 2019 Aug 10. doi: 10.3390/ijms20163903
PMCID:
PMC6721049
AbstractArticlePDF–258K
8.
The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain
Sven H. Schmidt, Matthias J. Knape, Daniela Boassa, Natascha Mumdey, Alexandr P. Kornev, Mark H. Ellisman, Susan S. Taylor, Friedrich W. Herberg
Proc Natl Acad Sci U S A. 2019 Jul 23; 116(30): 14979–14988. Published online 2019 Jul 10. doi: 10.1073/pnas.1900289116
PMCID:
PMC6660771
AbstractArticlePDF–1.6M
9.
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Caroline F. Wright, Ben West, Marcus Tuke, Samuel E. Jones, Kashyap Patel, Thomas W. Laver, Robin N. Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew T. Hattersley, Michael N. Weedon
Am J Hum Genet. 2019 Feb 7; 104(2): 275–286. Published online 2019 Jan 18. doi: 10.1016/j.ajhg.2018.12.015
PMCID:
PMC6369448
AbstractArticlePDF–574K
10.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
Cornelis Blauwendraat, Xylena Reed, Demis A. Kia, Ziv Gan-Or, Suzanne Lesage, Lasse Pihlstrøm, Rita Guerreiro, J. Raphael Gibbs, Marya Sabir, Sarah Ahmed, Jinhui Ding, Roy N. Alcalay, Sharon Hassin-Baer, Alan M. Pittman, Janet Brooks, Connor Edsall, Dena G. Hernandez, Sun Ju Chung, Stefano Goldwurm, Mathias Toft, Claudia Schulte, Jose Bras, Nicholas W. Wood, Alexis Brice, Huw R. Morris, Sonja W. Scholz, Mike A. Nalls, Andrew B. Singleton, Mark R. Cookson
JAMA Neurol. 2018 Nov; 75(11): 1416–1422. Published online 2018 Jul 23. doi: 10.1001/jamaneurol.2018.1885
PMCID:
PMC6248108
AbstractArticle
11.
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients
Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly
Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501
PMCID:
PMC6174458
AbstractArticlePDF–357K
12.
Role of LRRK2 in the regulation of dopamine receptor trafficking
Mauro Rassu, Maria Grazia Del Giudice, Simona Sanna, Jean Marc Taymans, Michele Morari, Alberto Brugnoli, Martina Frassineti, Alessandra Masala, Sonia Esposito, Manuela Galioto, Cristiana Valle, Maria Teresa Carri, Alice Biosa, Elisa Greggio, Claudia Crosio, Ciro Iaccarino
PLoS One. 2017; 12(6): e0179082. Published online 2017 Jun 5. doi: 10.1371/journal.pone.0179082
PMCID:
PMC5459500
AbstractArticlePDF–11M
13.
Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR
Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger
BMC Med Genet. 2016; 17(1): 65. Published online 2016 Sep 9. doi: 10.1186/s12881-016-0327-x
PMCID:
PMC5016953
AbstractArticlePDF–380K
14.
Splicing: is there an alternative contribution to Parkinson’s disease?
Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro
Neurogenetics. 2015; 16: 245–263. Published online 2015 May 16. doi: 10.1007/s10048-015-0449-x
PMCID:
PMC4573652
AbstractArticlePDF–923K
15.
Blood-Based Gene-Expression Biomarkers of Post-Traumatic Stress Disorder among Deployed Marines: A Pilot Study
Daniel S. Tylee, Sharon D. Chandler, Caroline M. Nievergelt, Xiaohua Liu, Joel Pazol, Christopher H. Woelk, James B. Lohr, William S. Kremen, Marine Resiliency Study Investigators, Dewleen G. Baker, Stephen J. Glatt, Ming T. Tsuang
Psychoneuroendocrinology. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Psychoneuroendocrinology. 2015 Jan; 51: 472–494. Published online 2014 Sep 30. doi: 10.1016/j.psyneuen.2014.09.024
PMCID:
PMC4199086
AbstractArticlePDF–858K
16.
Dysregulated LRRK2 Signaling in Response to Endoplasmic Reticulum Stress Leads to Dopaminergic Neuron Degeneration in C. elegans
Yiyuan Yuan, Pengxiu Cao, Mark A. Smith, Kristopher Kramp, Ying Huang, Naoki Hisamoto, Kunihiro Matsumoto, Maria Hatzoglou, Hui Jin, Zhaoyang Feng
PLoS One. 2011; 6(8): e22354. Published online 2011 Aug 3. doi: 10.1371/journal.pone.0022354
PMCID:
PMC3153934
AbstractArticlePDF–1.9M
17.
INSIGHT INTO THE MODE OF ACTION OF THE LRRK2 Y1699C PATHOGENIC MUTANT
Veronique Daniëls, Renée Vancraenenbroeck, Bernard MH Law, Elisa Greggio, Evy Lobbestael, Fangye Gao, Marc De Maeyer, Mark R Cookson, Kirsten Harvey, Veerle Baekelandt, Jean-Marc Taymans
J Neurochem. Author manuscript; available in PMC 2012 Jan 1.
Published in final edited form as: J Neurochem. 2011 Jan; 116(2): 304–315. doi: 10.1111/j.1471-4159.2010.07105.x
PMCID:
PMC3005098
AbstractArticlePDF–807K

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