PMC Links for Gene (Select 363145) - PMC

Select item 48437801.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Braden S. Jensen, Tobias Willer, Dimah N. Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki A. Stefans, Thomas L. Winder, Kevin P. Campbell, Steven A. Moore, Katherine D. Mathews

Hum Mutat. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Hum Mutat. 2015 Dec; 36(12): 1159–1163. Published online 2015 Sep 23. doi: 10.1002/humu.22898

PMCID:: PMC4843780

Abstract Article PDF–786K

Select item 37107682.

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren J. Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A. Moore, Sonia Messina, Enrico Bertini, Carsten G. Bönnemann, Jose E. Abdenur, Carla M. Grosmann, Akanchha Kesari, Jaya Punetha, Ros Quinlivan, Leigh B. Waddell, Helen K. Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline Sewry, Daniel G. MacArthur, Kathryn N. North, Eric Hoffman, Derek L. Stemple, Matthew E. Hurles, Hans van Bokhoven, Kevin P. Campbell, Dirk J. Lefeber, UK10K Consortium, Yung-Yao Lin, Francesco Muntoni

Am J Hum Genet. 2013 Jul 11; 93(1): 29–41. doi: 10.1016/j.ajhg.2013.05.009

PMCID:: PMC3710768

Abstract Article PDF–1.7M

Select item 27788443.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 31780594.

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

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