PMC Links for Nucleotide (Select 1653962223) - PMC

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Items: 3

Select item 41899061.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond, Anete Rozkalne, Chiara Pantaleoni, Simona Saredi, Vandana A. Gupta, Christine M. Sunu, Timothy W. Yu, Peter B. Kang, Mustafa A. Salih, Marina Mora, Emanuela Gussoni, Christopher A. Walsh, M. Chiara Manzini

Hum Mol Genet. 2014 Nov 1; 23(21): 5781–5792. Published online 2014 Jun 11. doi: 10.1093/hmg/ddu296

PMCID:: PMC4189906

Abstract Article PDF–12M

Select item 39191382.

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Lucas T. Jae, Matthijs Raaben, Moniek Riemersma, Ellen van Beusekom, Vincent A. Blomen, Arno Velds, Ron. M. Kerkhoven, Jan E. Carette, Haluk Topaloglu, Peter Meinecke, Marja W. Wessels, Dirk J. Lefeber, Sean P. Whelan, Hans van Bokhoven, Thijn R. Brummelkamp

Science. Author manuscript; available in PMC 2014 Feb 10.

Published in final edited form as: Science. 2013 Apr 26; 340(6131): 479–483. Published online 2013 Mar 21. doi: 10.1126/science.1233675

PMCID:: PMC3919138

Article PDF–3.3M

Select item 38480403.

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

Takako Yoshida-Moriguchi, Tobias Willer, Mary E. Anderson, David Venzke, Tamieka Whyte, Francesco Muntoni, Hane Lee, Stanley F Nelson, Liping Yu, Kevin P. Campbell

Science. Author manuscript; available in PMC 2013 Dec 3.

Published in final edited form as: Science. 2013 Aug 23; 341(6148): 10.1126/science.1239951. Published online 2013 Aug 8. doi: 10.1126/science.1239951