PMC Links for Books (Select 1478104) - PMC

Select item 89500811.

Utility and Implications of Exome Sequencing in Early-Onset Parkinson’s Disease

Joanne Trinh, Katja Lohmann, Hauke Baumann, Alexander Balck, Max Borsche, Norbert Brüggemann, Leon Dure, Marissa Dean, Jens Volkmann, Sinem Tunc, Jannik Prasuhn, Heike Pawlack, Sophie Imhoff, Christina M. Lill, Meike Kasten, Peter Bauer, Arndt Rolfs, International Parkinson’s Disease Genomics Consortium (IPDGC), Christine Klein

Mov Disord. Author manuscript; available in PMC 2022 Mar 25.

Published in final edited form as: Mov Disord. 2019 Jan; 34(1): 133–137. Published online 2018 Dec 10. doi: 10.1002/mds.27559

PMCID:: PMC8950081

Abstract Article PDF–293K

Select item 63638642.

The role of monogenic genes in idiopathic Parkinson’s disease

Xylena Reed, Sara Bandrés-Ciga, Cornelis Blauwendraat, Mark R. Cookson

Neurobiol Dis. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Neurobiol Dis. 2019 Apr; 124: 230–239. Published online 2018 Nov 15. doi: 10.1016/j.nbd.2018.11.012

PMCID:: PMC6363864

Abstract Article PDF–519K

Select item 62829753.

Targeted Therapies for Parkinson's Disease: From Genetics to the Clinic

S. Pablo Sardi, Jesse M. Cedarbaum, Patrik Brundin

Mov Disord. 2018 May; 33(5): 684–696. Published online 2018 Apr 27. doi: 10.1002/mds.27414

PMCID:: PMC6282975

Abstract Article PDF–565K

Select item 59857934.

Familial aggregation of Parkinson’s disease and coaggregation with neuropsychiatric diseases: a population-based cohort study

Fu-Chao Liu, Huan-Tang Lin, Chang-Fu Kuo, Mei-Yun Hsieh, Lai-Chu See, Huang-Ping Yu

Clin Epidemiol. 2018; 10: 631–641. Published online 2018 May 30. doi: 10.2147/CLEP.S164330

PMCID:: PMC5985793

Abstract Article PDF–566K

Select item 56565095.

Penetrance estimate of LRRK2 p.G2019S Mutation in Individuals of Non-Ashkenazi Jewish Ancestry

Annie J. Lee, Yuanjia Wang, Roy N. Alcalay, Helen Mejia-Santana, Rachel Saunders-Pullman, Susan Bressman, Jean-Christophe Corvol, Alexis Brice, Suzanne Lesage, Graziella Mangone, Eduardo Tolosa, Claustre Pont-Sunyer, Dolores Vilas, Birgitt Schüle, Farah Kausar, Tatiana Foroud, Daniela Berg, Kathrin Brockmann, Stefano Goldwurm, Chiara Siri, Rosanna Asselta, Javier Ruiz-Martinez, Elisabet Mondragón, Connie Marras, Taneera Ghate, Nir Giladi, Anat Mirelman, Karen Marder, Michael J. Fox, LRRK2 Cohort Consortium

Mov Disord. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Mov Disord. 2017 Oct; 32(10): 1432–1438. Published online 2017 Jun 22. doi: 10.1002/mds.27059

PMCID:: PMC5656509

Abstract Article PDF–463K

Select item 55225136.

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Andreas Puschmann

Curr Neurol Neurosci Rep. 2017; 17(9): 66. Published online 2017 Jul 21. doi: 10.1007/s11910-017-0780-8

PMCID:: PMC5522513

Abstract Article PDF–475K

Select item 47495097.

The sensitivity and specificity of F-DOPA PET in a movement disorder clinic

Nevein Ibrahim, Joanna Kusmirek, Aaron F Struck, John M Floberg, Scott B Perlman, Catherine Gallagher, Lance T Hall

Am J Nucl Med Mol Imaging. 2016; 6(1): 102–109. Published online 2016 Jan 28.

PMCID:: PMC4749509

Abstract Article PDF–377K

Select item 47319258.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 46880529.

Variants in GBA, SNCA, and MAPT Influence Parkinson Disease Risk, Age at Onset, and Progression

Albert A. Davis, Kristin M. Andruska, Bruno A. Benitez, Brad A. Racette, Joel S. Perlmutter, Carlos Cruchaga

Neurobiol Aging. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Neurobiol Aging. 2016 Jan; 37: 209.e1–209.e7. Published online 2015 Sep 30. doi: 10.1016/j.neurobiolaging.2015.09.014

PMCID:: PMC4688052

Abstract Article PDF–800K

Select item 462402010.

GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment

Javier Ruiz-Martinez, Catharine E. Krebs, Vladimir Makarov, Ana Gorostidi, Jose Félix Martí-Massó, Coro Paisán-Ruiz

J Hum Genet. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: J Hum Genet. 2015 Oct; 60(10): 637–640. Published online 2015 Jul 2. doi: 10.1038/jhg.2015.69

PMCID:: PMC4624020

Abstract Article PDF–523K

Select item 450194211.

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

Karen Marder, Yuanjia Wang, Roy N. Alcalay, Helen Mejia-Santana, Ming-Xin Tang, Annie Lee, Deborah Raymond, Anat Mirelman, Rachel Saunders-Pullman, Lorraine Clark, Laurie Ozelius, Avi Orr-Urtreger, Nir Giladi, Susan Bressman, For the LRRK2 Ashkenazi Jewish Consortium

Neurology. 2015 Jul 7; 85(1): 89–95. doi: 10.1212/WNL.0000000000001708

PMCID:: PMC4501942

Abstract Article PDF–295K

Select item 435166112.

Differential effects of severe vs mild GBA mutations on Parkinson disease

Ziv Gan-Or, Idan Amshalom, Laura L. Kilarski, Anat Bar-Shira, Mali Gana-Weisz, Anat Mirelman, Karen Marder, Susan Bressman, Nir Giladi, Avi Orr-Urtreger

Neurology. 2015 Mar 3; 84(9): 880–887. doi: 10.1212/WNL.0000000000001315

PMCID:: PMC4351661

Abstract Article PDF–251K

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