PMC Links for GEO Profiles (Select 55638530) - PMC

Select item 43550741.

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

Anna Duarri, Esther A. R. Nibbeling, Michiel R. Fokkens, Michel Meijer, Melissa Boerrigter, Corien C. Verschuuren-Bemelmans, Berry P. H. Kremer, Bart P. van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J. Sinke, Dineke S. Verbeek

PLoS One. 2015; 10(3): e0116599. Published online 2015 Mar 10. doi: 10.1371/journal.pone.0116599

PMCID:: PMC4355074

Abstract Article PDF–623K

Select item 41815612.

KCNC3^R420H, a K⁺ Channel Mutation Causative in Spinocerebellar Ataxia 13 Displays Aberrant Intracellular Trafficking

Carolina Gallego-Iradi, Justin S. Bickford, Swati Khare, Alexis Hall, Jerelyn A. Nick, Donya Salmasinia, Kolja Wawrowsky, Serguei Bannykh, Duong P. Huynh, Diego E. Rincon-Limas, Stefan M. Pulst, Harry S. Nick, Pedro Fernandez-Funez, Michael F. Waters

Neurobiol Dis. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Neurobiol Dis. 2014 Nov; 71: 270–279. Published online 2014 Aug 22. doi: 10.1016/j.nbd.2014.08.020

PMCID:: PMC4181561

Abstract Article PDF–1.2M

Select item 31780593.

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 30661944.

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

Karla P. Figueroa, Michael F. Waters, Vartan Garibyan, Thomas D. Bird, Christopher M. Gomez, Laura P. W. Ranum, Natali A. Minassian, Diane M. Papazian, Stefan M. Pulst

PLoS One. 2011; 6(3): e17811. Published online 2011 Mar 29. doi: 10.1371/journal.pone.0017811

PMCID:: PMC3066194

Abstract Article PDF–977K

Select item 28149135.

KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients

Karla P. Figueroa, Natali A. Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bűrk, Alexis Brice, Alexandra Dűrr, Diane M. Papazian, Stefan-M Pulst

Hum Mutat. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Hum Mutat. 2010 Feb; 31(2): 191–196. doi: 10.1002/humu.21165

PMCID:: PMC2814913

Abstract Article PDF–478K

Select item 3833226.

High-Density Rat Radiation Hybrid Maps Containing Over 24,000 SSLPs, Genes, and ESTs Provide a Direct Link to the Rat Genome Sequence

Anne E. Kwitek, Jo Gullings-Handley, Jiaming Yu, Danilo C. Carlos, Kimberly Orlebeke, Jeff Nie, Jeffrey Eckert, Angela Lemke, Jaime Wendt Andrae, Susan Bromberg, Dean Pasko, Dan Chen, Todd E. Scheetz, Thomas L. Casavant, M. Bento Soares, Val C. Sheffield, Peter J. Tonellato, Howard J. Jacob

Genome Res. 2004 Apr; 14(4): 750–757. doi: 10.1101/gr.1968704

PMCID:: PMC383322

Abstract Article PDF–254K

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