PMC Links for Nucleotide (Select 1675158024) - PMC

Select item 26672851.

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

David A. Parfitt, Gregory J. Michael, Esmeralda G.M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean-Marc Gallo, Michael E. Cheetham, William S. Nicoll, Gregory L. Blatch, J. Paul Chapple

Hum Mol Genet. 2009 May 1; 18(9): 1556–1565. Published online 2009 Feb 10. doi: 10.1093/hmg/ddp067

PMCID:: PMC2667285

Abstract Article PDF–441K

Select item 69957332.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Abstract Article PDF–1.1M

Select item 66125333.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L.M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew M. Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L. Perlman, Ian Rosemergy, Elsdon Storey, Shaun R.D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

Am J Hum Genet. 2019 Jul 3; 105(1): 151–165. Published online 2019 Jun 20. doi: 10.1016/j.ajhg.2019.05.016

PMCID:: PMC6612533

Abstract Article PDF–2.2M

Select item 56660204.

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing

Zhen Zhang, Qi Li, Mei Diao, Na Liu, Wei Cheng, Ping Xiao, Jizhen Zou, Lin Su, Kaihui Yu, Jian Wu, Long Li, Qian Jiang

Sci Rep. 2017; 7: 14796. Published online 2017 Nov 1. doi: 10.1038/s41598-017-14835-6

PMCID:: PMC5666020

Abstract Article PDF–2.1M

Select item 45483085.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Sarah F. Barclay, Casey M. Rand, Lauren A. Borch, Lisa Nguyen, Paul A. Gray, William T. Gibson, Richard J. A. Wilson, Paul M. K. Gordon, Zaw Aung, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, Debra E. Weese-Mayer, N. Torben Bech-Hansen

Orphanet J Rare Dis. 2015; 10: 103. Published online 2015 Aug 25. doi: 10.1186/s13023-015-0314-x

PMCID:: PMC4548308

Abstract Article PDF–503K

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