Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

@article{Williams2015NovelTT,
  title={Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.},
  author={Kelly L Williams and E P McCann and Jennifer A. Fifita and Katharine Y. Zhang and Emma L. Duncan and Paul J Leo and Mhairi S Marshall and Dominic B Rowe and Garth A. Nicholson and Ian P. Blair},
  journal={Neurobiology of aging},
  year={2015},
  volume={36 12},
  pages={3334.e1-3334.e5}
}
Missense and frameshift mutations in TRAF family member-associated NF-kappa-B activator (TANK)-binding kinase 1 (TBK1) have been reported in European sporadic and familial amyotrophic lateral sclerosis (ALS) cohorts. To assess the role of TBK1 in ALS patient cohorts of wider ancestry, we have analyzed whole-exome sequence data from an Australian cohort of familial ALS (FALS) patients and controls. We identified a novel TBK1 deletion (c.1197delC) in a FALS patient of Chinese origin. This… CONTINUE READING
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Methods for detecting associations with rare variants

  • S. M. Leal
  • Cell Rep
  • 2008
Highly Influential
6 Excerpts

Mutations in the SPTLC 1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts

  • A. Vester, G. Velez-Ruiz, +8 authors G. Nicholson
  • DNA and Cell Biology
  • 2014

A lossoffunction variant in the human histidyltRNA synthetase ( HARS ) gene is neurotoxic in vivo

  • E. Yiu, C. Ly
  • Human Mutation
  • 2013

A new locus for X - linked dominant CharcotMarieTooth disease ( CMTX 6 ) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 ( PDK 3 ) gene

  • S. Vucic, G. Nicholson, A. Chio, M. Kiernan
  • Human Molecular Genetics
  • 2013

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