PMC Articles for MedGen (Select 896658) - PMC

Select item 24272111.

Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease

Corinne Lautier, Stefano Goldwurm, Alexandra Dürr, Barbara Giovannone, William G. Tsiaras, Gianni Pezzoli, Alexis Brice, Robert J. Smith

Am J Hum Genet. 2008 Apr 11; 82(4): 822–833. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.015

PMCID:: PMC2427211

Abstract Article PDF–1.4M

Select item 12713812.

High-Resolution Whole-Genome Association Study of Parkinson Disease

Demetrius M. Maraganore, Mariza de Andrade, Timothy G. Lesnick, Kari J. Strain, Matthew J. Farrer, Walter A. Rocca, P. V. Krishna Pant, Kelly A. Frazer, David R. Cox, Dennis G. Ballinger

Am J Hum Genet. 2005 Nov; 77(5): 685–693. Published online 2005 Sep 9. doi: 10.1086/496902

PMCID:: PMC1271381

Abstract Article PDF–109K

Select item 27732763.

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling

Barbara Giovannone, William G. Tsiaras, Suzanne de la Monte, Jan Klysik, Corinne Lautier, Galina Karashchuk, Stefano Goldwurm, Robert J. Smith

Hum Mol Genet. 2009 Dec 1; 18(23): 4629–4639. Published online 2009 Sep 10. doi: 10.1093/hmg/ddp430

PMCID:: PMC2773276

Abstract Article PDF–449K

Select item 51209344.

Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report

Tereza Bartonikova, Katerina Mensikova, Lenka Mikulicova, Radek Vodicka, Radek Vrtel, Marek Godava, Miroslav Vastik, Michaela Kaiserova, Pavel Otruba, Iva Dolinova, Martin Nevrly, Petr Kanovsky

Medicine (Baltimore) 2016 Nov; 95(46): e5398. Published online 2016 Nov 18. doi: 10.1097/MD.0000000000005398

PMCID:: PMC5120934

Abstract Article PDF–502K

Select item 27015095.

Divergent Synthesis of a Pochonin Library Targeting HSP90 and in vivo Efficacy of Identified Inhibitor

Sofia Barluenga, Cuihua Wong, Jean-Gonzague Fontaine, Kaïss Aouadi, Kristin Beebe, Shinji Tsutsumi, Len Neckers, Nicolas Winssinger

Angew Chem Int Ed Engl. Author manuscript; available in PMC 2009 Jun 25.

Published in final edited form as: Angew Chem Int Ed Engl. 2008; 47(23): 4432–4435. doi: 10.1002/anie.200800233

PMCID:: PMC2701509

Abstract Article PDF–1.1M

Select item 96897436.

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson’s Disease

Jeffrey Kim, Etienne W. Daadi, Thomas Oh, Elyas S. Daadi, Marcel M. Daadi

Genes (Basel) 2022 Nov; 13(11): 1937. Published online 2022 Oct 25. doi: 10.3390/genes13111937

PMCID:: PMC9689743

Abstract Article PDF–575K

Select item 73877167.

Beyond Host Defense: Deregulation of Drosophila Immunity and Age-Dependent Neurodegeneration

Srishti Arora, Petros Ligoxygakis

Front Immunol. 2020; 11: 1574. Published online 2020 Jul 22. doi: 10.3389/fimmu.2020.01574

PMCID:: PMC7387716

Abstract Article PDF–765K

Select item 61921978.

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations

Masashi Takanashi, Manabu Funayama, Eiji Matsuura, Hiroyo Yoshino, Yuanzhe Li, Sho Tsuyama, Hiroshi Takashima, Kenya Nishioka, Nobutaka Hattori

Acta Neuropathol Commun. 2018; 6: 105. Published online 2018 Oct 17. doi: 10.1186/s40478-018-0617-y

PMCID:: PMC6192197

Abstract Article PDF–4.4M

Select item 48256729.

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study

Olena Korvatska, James B. Leverenz, Suman Jayadev, Pamela McMillan, Irina Kurtz, Xindi Guo, Malia Rumbaugh, Mark Matsushita, Santhosh Girirajan, Michael O. Dorschner, Kostantin Kiianitsa, Chang-En Yu, Zoran Brkanac, Gwenn A. Garden, Wendy H. Raskind, Thomas D. Bird

JAMA Neurol. Author manuscript; available in PMC 2016 Apr 8.

Published in final edited form as: JAMA Neurol. 2015 Aug; 72(8): 920–927. doi: 10.1001/jamaneurol.2015.0979

PMCID:: PMC4825672

Abstract Article PDF–667K

Select item 417143810.

Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson’s disease

Taku Hatano, Manabu Funayama, Shin-ichiro Kubo, Ignacio F. Mata, Yutaka Oji, Akio Mori, Cyrus P. Zabetian, Sarah M. Waldherr, Hiroyo Yoshino, Genko Oyama, Yasushi Shimo, Ken-ichi Fujimoto, Hirokazu Oshima, Yasuto Kunii, Hirooki Yabe, Yoshikuni Mizuno, Nobutaka Hattori

Neurobiol Aging. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Neurobiol Aging. 2014 Nov; 35(11): 2656.e17–2656.e23. Published online 2014 Jun 2. doi: 10.1016/j.neurobiolaging.2014.05.025

PMCID:: PMC4171438

Abstract Article PDF–650K

Select item 348870011.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Manu Sharma, John P A Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Lars Bertram, Maria Bozi, Maria Barcikowska, David Crosiers, Carl E Clarke, Maurizio F Facheris, Matthew Farrer, Gaetan Garraux, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Beom S Jeon, Zygmunt Jamrozik, Anna Krygowska-Wajs, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Cecile Libioulle, Miho Murata, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Thomas Meitnger, Alexander Zimprich, Grzegorz Opala, Peter P Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A. Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A Silburn, Tim M Strom, Jessie Theuns, Eng- King Tan, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J Uitti, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Harumi S Yomono, Kuo-Chu Yueh, Yi Zhao, Thomas Gasser, Demetrius Maraganore, Rejko Krüger, on behalf of GEOPD consortium

J Med Genet. 2012 Nov; 49(11): 721–726. doi: 10.1136/jmedgenet-2012-101155

Correction in:: J Med Genet. 2013 Mar; 50(3): 202.

PMCID:: PMC3488700

Abstract Article PDF–219K

Select item 321791412.

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

Conceição Bettencourt, Cristina Santos, Paula Coutinho, Patrizia Rizzu, João Vasconcelos, Teresa Kay, Teresa Cymbron, Mafalda Raposo, Peter Heutink, Manuela Lima

BMC Neurol. 2011; 11: 131. Published online 2011 Oct 24. doi: 10.1186/1471-2377-11-131

PMCID:: PMC3217914

Abstract Article PDF–264K

Select item 297880413.

Clinical Expression of LRRK2 G2019S Mutations in the Elderly

Marta San Luciano, Richard B. Lipton, Cuiling Wang, Mindy Katz, Molly E. Zimmerman, Amy E. Sanders, Laurie J. Ozelius, Susan B. Bressman, Rachel Saunders-Pullman

Mov Disord. Author manuscript; available in PMC 2011 Nov 15.

Published in final edited form as: Mov Disord. 2010 Nov 15; 25(15): 2571–2576. doi: 10.1002/mds.23330

PMCID:: PMC2978804

Abstract Article PDF–352K

Select item 266805214.

Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE

Lars Bertram, Christoph Lange, Kristina Mullin, Michele Parkinson, Monica Hsiao, Meghan F. Hogan, Brit M.M. Schjeide, Basavaraj Hooli, Jason DiVito, Iuliana Ionita, Hongyu Jiang, Nan Laird, Thomas Moscarillo, Kari L. Ohlsen, Kathryn Elliott, Xin Wang, Diane Hu-Lince, Marie Ryder, Amy Murphy, Steven L. Wagner, Deborah Blacker, K. David Becker, Rudolph E. Tanzi

Am J Hum Genet. 2008 Nov 17; 83(5): 623–632. doi: 10.1016/j.ajhg.2008.10.008

PMCID:: PMC2668052

Abstract Article PDF–516K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 14

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity