PMC Links for GEO Profiles (Select 28497017) - PMC

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Items: 4

Select item 31780591.

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 31467262.

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R. Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul Mullen, Frederick Andermann, Sara E. Mole, Melanie Bahlo, Samuel F. Berkovic

Am J Hum Genet. 2011 May 13; 88(5): 566–573. doi: 10.1016/j.ajhg.2011.04.004

PMCID:: PMC3146726

Abstract Article PDF–333K

Select item 27904433.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

Annina Lyly, Carina von Schantz, Claudia Heine, Mia-Lisa Schmiedt, Tessa Sipilä, Anu Jalanko, Aija Kyttälä

BMC Cell Biol. 2009; 10: 83. Published online 2009 Nov 26. doi: 10.1186/1471-2121-10-83

PMCID:: PMC2790443

Abstract Article PDF–2.0M

Select item 3849124.

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse

Hanlin Gao, Rose-Mary N. Boustany, Janice A. Espinola, Susan L. Cotman, Lakshmi Srinidhi, Kristen Auger Antonellis, Tammy Gillis, Xuebin Qin, Shumei Liu, Leah R. Donahue, Roderick T. Bronson, Jerry R. Faust, Derek Stout, Jonathan L. Haines, Terry J. Lerner, Marcy E. MacDonald

Am J Hum Genet. 2002 Feb; 70(2): 324–335. Published online 2001 Dec 21. doi: 10.1086/338190