PMC Links for GEO Profiles (Select 65270702) - PMC

Select item 35261051.

Dystroglycan organizes axon guidance cue localization and axonal pathfinding

Kevin M. Wright, Krissy Lyon, Haiwen Leung, Daniel J. Leahy, Le Ma, David D. Ginty

Neuron. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Neuron. 2012 Dec 6; 76(5): 931–944. doi: 10.1016/j.neuron.2012.10.009

PMCID:: PMC3526105

Abstract Article PDF–3.5M

Select item 33786612.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of a-dystroglycan

Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E.L.M. Vissers, Margit Schraders, Umut Altunoglu, Michael F. Buckley, Han G. Brunner, Bernard Grisart, Huiqing Zhou, Joris A. Veltman, Christian Gilissen, Grazia M.S. Mancini, Paul Delrée, Michèl A. Willemsen, Danijela Petkovic Ramadža, David Chitayat, Christopher Bennett, Eamonn Sheridan, Els A.J. Peeters, Gita M.B. Tan-Sindhunata, Christine E. de Die-Smulders, Koenraad Devriendt, Hülya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L. Stemple, Dirk J. Lefeber, Yung-Yao Lin, Hans van Bokhoven

Nat Genet. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Nat Genet. 2012 May; 44(5): 581–585. doi: 10.1038/ng.2253

PMCID:: PMC3378661

Abstract Article PDF–2.1M

Select item 33711683.

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida-Moriguchi, Daniel Beltran Valero de Bernabe, David Venzke, Sebahattin Cirak, Harry Schachter, Jiri Vajsar, Thomas Voit, Francesco Muntoni, Andrea S. Loder, William B. Dobyns, Thomas L. Winder, Sabine Strahl, Katherine D. Mathews, Stanley F. Nelson, Steven A. Moore, Kevin P. Campbell

Nat Genet. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Nat Genet. 2012 May; 44(5): 575–580. doi: 10.1038/ng.2252

PMCID:: PMC3371168

Abstract Article PDF–884K

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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