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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 15, 2014 - Issue 3-4
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Research Article

ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort

Yan MaDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Lu TangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Lu ChenDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Bin ZhangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Pan DengDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Jingran WangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Yi YangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Rong LiuDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Yan YangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Shan YeDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Xiaolu LiuDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Huagang ZhangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
&
Dongsheng FanDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, ChinaCorrespondence[email protected]
 show all
Pages 309-311 | Received 18 Nov 2013, Accepted 18 Feb 2014, Published online: 08 Apr 2014

References

  • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat Rev Neurol. 2011;7:603–15.
  • Liu X, Lu M, Tang L, Zhang N, Chui D, Fan D. ATXN2 CAG repeat expansions increase the risk for Chinese ALS patients. Neurobiol Aging. 2013;34:2236.e5–8.
  • Zhang H, Zhao H, Lu M, Zhang Y, Wang L, Zhang J, et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China. Amyotroph Lateral Scler. 2005;6:234–8.
  • Droppelmann CA, Wang J, Campos-Melo D, Keller B, Volkening K, Hegele RA, et al. Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2013; Early Online: 1–8.
  • Volkening K, Leystra-Lantz C, Strong MJ. Human low molecular weight neurofilament (NFL) mRNA interacts with a predicted p190RhoGEF homologue (RGNEF) in humans. Amyotroph Lateral Scler. 2010;11:97–103.

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