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Amyotrophic Lateral Sclerosis Volume 7, 2006 - Issue 3
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ORIGINAL ARTICLE

Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation

Gardian C. Y. Fong Division of Neurology, University Department of Medicine
,
Ken H. H. Kwok Division of Neurology, University Department of Medicine
,
Y. Q. Song Genome Research Centre and Department of Biochemistry, University of Hong Kong
,
T. S. Cheng Division of Neurology, University Department of Medicine
,
Philip W. L. Ho Division of Neurology, University Department of Medicine
,
Andrew C. Y. Chu Division of Neurology, University Department of Medicine
,
Michelle H. W. Kung Division of Neurology, University Department of Medicine
,
K. H. Chan Division of Neurology, University Department of Medicine
,
Windsor Mak Division of Neurology, University Department of Medicine
,
Raymond T. F. Cheung Division of Neurology, University Department of Medicine; Research Centre of Heart, Brain, Hormone and Healthy Aging (HBHA)
,
David B. Ramsden Department of Medicine, University of Birmingham, UK
&
S. L. Ho Division of Neurology, University Department of Medicine; Research Centre of Heart, Brain, Hormone and Healthy Aging (HBHA)
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Pages 142-149 | Received 19 Jan 2006, Accepted 23 Mar 2006, Published online: 10 Jul 2009

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Renshi Xu, Bei Shao, Chengsi Wu, Yunzhu Yang, Hanmin Wang, Rongwei Yang, Xiong Zhang, Juan Yi & Jingjing Liu. (2013) Identification of Tau and SOD1 gene mutation in a small Chinese Han pedigree of adult amyotrophic lateral sclerosis. Neurocase 19:5, pages 497-504.
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Articles from other publishers (6)

Hamza Dakhil Zaji, Bagher Seyedalipour, Haider Munzer Hanun, Payam Baziyar, Saman Hosseinkhani & Mona Akhlaghi. (2023) Computational insight into in silico analysis and molecular dynamics simulation of the dimer interface residues of ALS-linked hSOD1 forms in apo/holo states: a combined experimental and bioinformatic perspective. 3 Biotech 13:3.
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Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham & Shu-Leong Ho. (2017) The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review. Translational Neurodegeneration 6:1.
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Shirley Yin-Yu Pang, Jacob Shujui Hsu, Kay-Cheong Teo, Yan Li, Michelle H.W. Kung, Kathryn S.E. Cheah, Danny Chan, Kenneth M.C. Cheung, Miaoxin Li, Pak-Chung Sham & Shu-Leong Ho. (2017) Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. Neurobiology of Aging 58, pages 238.e9-238.e15.
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Olubunmi Abel, John F. Powell, Peter M. Andersen & Ammar Al-Chalabi. (2013) Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics. PLoS ONE 8:6, pages e64899.
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Yan-Fang NIU, Hui-Ling XIONG, Jian-Jun WU, Yan CHEN, Kai QIAO & Zhi-Ying WU. (2011) Screening of mutations in <I>SOD1</I> gene and analysis of geno-type-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis. Hereditas (Beijing) 33:7, pages 720-724.
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Man-Cheuk Ng, Jenny Ting Ho, Shu-Leong Ho, Raymand Lee, Geng Li, Tat-Sun Cheng, You-Qiang Song, Philip Wing-Lok Ho, Gardian Chung-Yan Fong, Windsor Mak, Koon-Ho Chan, Leonard Sheung-Wai Li, Keith Dip-Kei Luk, Yong Hu, David Boyer Ramsden & Lilian Ling-Yee Leong. (2008) Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. Journal of Magnetic Resonance Imaging 27:1, pages 8-13.
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