XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

NC Hoch; H Hanzlikova; SL Rulten; M Tetreault; E Komulainen; LM Ju; P Hornyak; ZH Zeng; W Gittens; SA Rey; K Staras; Grazia Verheijen - Mancini; PJ McKinnon; ZQ Wang; JD Wagner; G Yoon; KW Caldecott

doi:10.1038/nature20790

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

NC Hoch, H Hanzlikova, SL Rulten, M Tetreault, E Komulainen, LM Ju, P Hornyak, ZH Zeng, W Gittens, SA Rey, K Staras, Grazia Verheijen - Mancini, PJ McKinnon, ZQ Wang, JD Wagner, G Yoon, KW Caldecott

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

169 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	87-+
Journal	Nature
Volume	541
Issue number	7635
DOIs	https://doi.org/10.1038/nature20790
Publication status	Published - 2017

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10.1038/nature20790

http://hdl.handle.net/1765/98904

Cite this

Hoch, NC., Hanzlikova, H., Rulten, SL., Tetreault, M., Komulainen, E., Ju, LM., Hornyak, P., Zeng, ZH., Gittens, W., Rey, SA., Staras, K., Verheijen - Mancini, G., McKinnon, PJ., Wang, ZQ., Wagner, JD., Yoon, G., & Caldecott, KW. (2017). XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature, 541(7635), 87-+. https://doi.org/10.1038/nature20790

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title = "XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia",

author = "NC Hoch and H Hanzlikova and SL Rulten and M Tetreault and E Komulainen and LM Ju and P Hornyak and ZH Zeng and W Gittens and SA Rey and K Staras and {Verheijen - Mancini}, Grazia and PJ McKinnon and ZQ Wang and JD Wagner and G Yoon and KW Caldecott",

year = "2017",

doi = "10.1038/nature20790",

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Hoch, NC, Hanzlikova, H, Rulten, SL, Tetreault, M, Komulainen, E, Ju, LM, Hornyak, P, Zeng, ZH, Gittens, W, Rey, SA, Staras, K, Verheijen - Mancini, G, McKinnon, PJ, Wang, ZQ, Wagner, JD, Yoon, G & Caldecott, KW 2017, 'XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia', Nature, vol. 541, no. 7635, pp. 87-+. https://doi.org/10.1038/nature20790

TY - JOUR

T1 - XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

AU - Hoch, NC

AU - Hanzlikova, H

AU - Rulten, SL

AU - Tetreault, M

AU - Komulainen, E

AU - Ju, LM

AU - Hornyak, P

AU - Zeng, ZH

AU - Gittens, W

AU - Rey, SA

AU - Staras, K

AU - Verheijen - Mancini, Grazia

AU - McKinnon, PJ

AU - Wang, ZQ

AU - Wagner, JD

AU - Yoon, G

AU - Caldecott, KW

PY - 2017

Y1 - 2017

U2 - 10.1038/nature20790

DO - 10.1038/nature20790

M3 - Article

SN - 0028-0836

VL - 541

SP - 87-+

JO - Nature

JF - Nature

IS - 7635

ER -