PMC Links for GEO Profiles (Select 75146667) - PMC

Select item 70094691.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly

Brain. 2020 Feb; 143(2): 480–490. Published online 2020 Feb 10. doi: 10.1093/brain/awz418

PMCID:: PMC7009469

Abstract Article PDF–737K

Select item 67095272.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke, Muhammad Ilyas, Eloise Tribollet, Pedro J. Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stephanie Efthymiou, Diego Kaski, Nick W. Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo Bronstein, Pietro Fratta, Wilson J. Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

Nat Genet. Author manuscript; available in PMC 2019 Aug 26.

Published in final edited form as: Nat Genet. 2019 Apr; 51(4): 649–658. Published online 2019 Mar 29. doi: 10.1038/s41588-019-0372-4

Correction in:: Nat Genet. 2019 May; 51(5): 920.

PMCID:: PMC6709527

Abstract Article PDF–1.1M

Select item 40432103.

Detecting Maternal-Fetal Genotype Interactions Associated with Conotruncal Heart Defects: A Haplotype-based Analysis with Penalized Logistic Regression

Ming Li, Stephen W. Erickson, Charlotte A. Hobbs, Jingyun Li, Xinyu Tang, Todd G Nick, Stewart L Macleod, Mario A Cleves, the National Birth Defect Prevention Study

Genet Epidemiol. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Genet Epidemiol. 2014 Apr; 38(3): 198–208. Published online 2014 Mar 2. doi: 10.1002/gepi.21793

PMCID:: PMC4043210

Abstract Article PDF–1.4M

Select item 36839034.

Replication Clamps and Clamp Loaders

Mark Hedglin, Ravindra Kumar, Stephen J. Benkovic

Cold Spring Harb Perspect Biol. 2013 Apr; 5(4): a010165. doi: 10.1101/cshperspect.a010165

PMCID:: PMC3683903

Abstract Article PDF–1.0M

Select item 35428005.

ATAD5 regulates the lifespan of DNA replication factories by modulating PCNA level on the chromatin

Kyoo-young Lee, Haiqing Fu, Mirit I. Aladjem, Kyungjae Myung

J Cell Biol. 2013 Jan 7; 200(1): 31–44. doi: 10.1083/jcb.201206084

PMCID:: PMC3542800

Abstract Article PDF–3.6M

Select item 33752566.

Down-Regulation of Replication Factor C-40 (RFC40) Causes Chromosomal Missegregation in Neonatal and Hypertrophic Adult Rat Cardiac Myocytes

Hirotaka Ata, Deepa Shrestha, Masahiko Oka, Rikuo Ochi, Chian Ju Jong, Sarah Gebb, John Benjamin, Stephen Schaffer, Holly H. Hobart, James Downey, Ivan McMurtry, Rakhee Gupte

PLoS One. 2012; 7(6): e39009. Published online 2012 Jun 14. doi: 10.1371/journal.pone.0039009

PMCID:: PMC3375256

Abstract Article PDF–790K

Select item 32033907.

Genetic Variants and Susceptibility to Neurological Complications Following West Nile Virus Infection

Mark Loeb, Sasha Eskandarian, Mark Rupp, Neil Fishman, Leanne Gasink, Jan Patterson, Jonathan Bramson, Thomas J Hudson, Mathieu Lemire

J Infect Dis. 2011 Oct 1; 204(7): 1031–1037. doi: 10.1093/infdis/jir493

PMCID:: PMC3203390

Abstract Article PDF–129K

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 26370509.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Abstract Article

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