PMC Links for Protein (Select 29788755) - PMC

Select item 53476881.

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans

Bryan P. Schneider, Dongbing Lai, Fei Shen, Guanglong Jiang, Milan Radovich, Lang Li, Laura Gardner, Kathy D. Miller, Anne O'Neill, Joseph A. Sparano, Gloria Xue, Tatiana Foroud, George W. Sledge, Jr

Oncotarget. 2016 Dec 13; 7(50): 82244–82253. Published online 2016 Oct 9. doi: 10.18632/oncotarget.12545

PMCID:: PMC5347688

Abstract Article PDF–1.3M

Select item 44114142.

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Meiyan Chen, Jing Wu, Ning Liang, Lihui Tang, Yanhua Chen, Huishuang Chen, Wei Wei, Tianying Wei, Hui Huang, Xin Yi, Ming Qi

Genomics Proteomics Bioinformatics. 2014 Oct; 12(5): 221–227. Published online 2014 Oct 28. doi: 10.1016/j.gpb.2014.09.003

PMCID:: PMC4411414

Abstract Article PDF–718K

Select item 43648693.

Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome–lysosome fusion

Steve Jean, Sarah Cox, Sonya Nassari, Amy A Kiger

EMBO Rep. 2015 Mar; 16(3): 297–311. Published online 2015 Feb 3. doi: 10.15252/embr.201439464

PMCID:: PMC4364869

Abstract Article PDF–1.8M

Select item 11802674.

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

H. Azzedine, A. Bolino, T. Taïeb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, E. LeGuern

Am J Hum Genet. 2003 May; 72(5): 1141–1153. Published online 2003 Apr 8. doi: 10.1086/375034

PMCID:: PMC1180267

Abstract Article PDF–763K

Select item 54208085.

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Maie Walsh, Katrina M. Bell, Belinda Chong, Emma Creed, Gemma R. Brett, Kate Pope, Natalie P. Thorne, Simon Sadedin, Peter Georgeson, Dean G. Phelan, Timothy Day, Jessica A. Taylor, Adrienne Sexton, Paul J. Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L. Gaff, Alicia Oshlack, Eppie M. Yiu, Paul A. James, Zornitza Stark, Monique M. Ryan, the Melbourne Genomics Health Alliance

Ann Clin Transl Neurol. 2017 May; 4(5): 318–325. Published online 2017 Apr 26. doi: 10.1002/acn3.409

PMCID:: PMC5420808

Abstract Article PDF–170K

Select item 49170056.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

Magdalena Zimoń, Esra Battaloǧlu, Yesim Parman, Sevim Erdem, Jonathan Baets, Els De Vriendt, Derek Atkinson, Leonardo Almeida-Souza, Tine Deconinck, Burcak Ozes, Dirk Goossens, Sebahattin Cirak, Philip Van Damme, Mohammad Shboul, Thomas Voit, Lionel Van Maldergem, Bernard Dan, Mohammed S. El-Khateeb, Velina Guergueltcheva, Eduardo Lopez-Laso, Nathalie Goemans, Amira Masri, Stephan Züchner, Vincent Timmerman, Haluk Topaloǧlu, Peter De Jonghe, Albena Jordanova

Neurogenetics. Author manuscript; available in PMC 2016 Jun 22.

Published in final edited form as: Neurogenetics. 2015 Jan; 16(1): 33–42. Published online 2014 Sep 18. doi: 10.1007/s10048-014-0422-0

PMCID:: PMC4917005

Abstract Article PDF–450K

Select item 25308237.

GENOME-WIDE ANALYSIS OF AGING AND LEARNING-RELATED GENES IN THE HIPPOCAMPAL DENTATE GYRUS

Corinna Burger, M. Cecilia Lopez, Henry V. Baker, Ronald J. Mandel, Nick Muzyczka

Neurobiol Learn Mem. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: Neurobiol Learn Mem. 2008 May; 89(4): 379–396. Published online 2008 Jan 29. doi: 10.1016/j.nlm.2007.11.006

PMCID:: PMC2530823

Abstract Article PDF–5.2M

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