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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 17, 2016 - Issue 7-8
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Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

Shi ShuNeuroscience Centre, CAMS, Beijing, ;McKusick-Zhang Centre for Genetic Medicine, CAMS & PUMC, Beijing, and
,
Xiao Ling LiNeuroscience Centre, CAMS, Beijing, ;McKusick-Zhang Centre for Genetic Medicine, CAMS & PUMC, Beijing, and
,
Qing LiuNeuroscience Centre, CAMS, Beijing, ;Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China
,
Fang LiuNeuroscience Centre, CAMS, Beijing, ;McKusick-Zhang Centre for Genetic Medicine, CAMS & PUMC, Beijing, and
,
Bo CuiNeuroscience Centre, CAMS, Beijing, ;Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China
,
Ming Sheng LiuNeuroscience Centre, CAMS, Beijing, ;Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China
,
Li-Ying CuiNeuroscience Centre, CAMS, Beijing, ;Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, China
,
Xiao Guang LiNeuroscience Centre, CAMS, Beijing, ;Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, ChinaCorrespondence[email protected]
&
Xue ZhangNeuroscience Centre, CAMS, Beijing, ;McKusick-Zhang Centre for Genetic Medicine, CAMS & PUMC, Beijing, and ;Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Beijing, ChinaCorrespondence[email protected]
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Pages 605-607 | Received 09 Feb 2016, Accepted 28 Mar 2016, Published online: 03 Jun 2016

References

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  • Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Muller K, et al. Haploinsufficiency of TBK1 causes familial ALS and frontotemporal dementia. Nat Neurosci. 2015;18:631–6.
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  • Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial “Clinical limits of amyotrophic lateral sclerosis” workshop contributors. Journal of the Neurological Sciences. 1994;124 (Suppl):96–107.
  • Tsai PC, Liu YC, Lin KP, Liu YT, Liao YC, Hsiao CT, et al. Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiology of Aging. 2016;40:e11–6.
  • Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathologica. 2015;130:77–92.
  • Gijselinck I, van Mossevelde S, van der Zee J, Sieben A, Philtjens S, Heeman B, et al. Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort. Neurology. 2015;85:2116–25.

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