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Amyotrophic Lateral Sclerosis Volume 6, 2005 - Issue 4
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Original Article

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China

Huagang Zhang Department of Neurology, Peking University Third Hospital, Beijing
,
Hongshan Zhao Centre for Human Disease Genomics, Peking University, Beijing; Laboratory of Medical Immunology, School of Basic Medical Science, Peking University, Beijing, China
,
Ming Lu Department of Neurology, Peking University Third Hospital, Beijing
,
Yingshuang Zhang Department of Neurology, Peking University Third Hospital, Beijing
,
Liping Wang Department of Neurology, Peking University Third Hospital, Beijing
,
Jun Zhang Department of Neurology, Peking University Third Hospital, Beijing
,
Dalon Ma Centre for Human Disease Genomics, Peking University, Beijing; Laboratory of Medical Immunology, School of Basic Medical Science, Peking University, Beijing, China
&
Dongsheng Fan Department of Neurology, Peking University Third Hospital, BeijingCorrespondence[email protected] [email protected]
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Pages 234-238 | Received 15 Mar 2005, Accepted 04 Jun 2005, Published online: 10 Jul 2009

Citations (8)

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Anna-Gaelle Giguet-Valard, Rémi Bellance, Séverine Jeannin, Sophie Duclos, Pascale Olive, Oriane Allard-Saint-Albin, Cécile Cazeneuve, Fabienne Clot, Pittion-Vouyovitch Sophie, Thomas Barnetche, Juliette Smith-Ravin & Cyril Goizet. (2021) SOD1-related ALS with anticipation in a large family from Martinique. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:7-8, pages 545-551.
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Hui-Xia Lin, Qing-Qing Tao, Qiao Wei, Cong-Xin Chen, Yu-Chao Chen, Hong-Fu Li, Aaron D. Gitler & Zhi-Ying Wu. (2019) Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:3-4, pages 222-228.
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Yan Ma, Lu Tang, Lu Chen, Bin Zhang, Pan Deng, Jingran Wang, Yi Yang, Rong Liu, Yan Yang, Shan Ye, Xiaolu Liu, Huagang Zhang & Dongsheng Fan. (2014) ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 15:3-4, pages 309-311.
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Guohua Zhao, Xinzhen Yin, Dingwen Wu, Shanying Mao, Houmin Yin & Baorong Zhang. (2011) Clinical Features and Cu/Zn Superoxide Dismutase Gene Mutations in Two Mainland Chinese Families With Amyotrophic Lateral Sclerosis. International Journal of Neuroscience 121:4, pages 191-195.
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Articles from other publishers (4)

Sevda Diker, Pınar Gelener, Kerem Teralı, Mahmut Cerkez Ergoren, Ceren Tunca, A. Nazlı Başak & Ersin Tan. (2021) A combined clinical and computational approach to understand the SOD1A4T-mediated pathogenesis of rapidly progressive familial amyotrophic lateral sclerosis. Acta Neurologica Belgica 122:4, pages 955-960.
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A. Vela, L. Galán, C. Valencia, P. de la Torre, L. Cuadrado, J. Esteban, A. Guerrero, A. García-Redondo & J. Matías-Guiu. (2012) SOD1-N196 mutation in a family with amyotrophic lateral sclerosis. Neurología (English Edition) 27:1, pages 11-15.
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A. Vela, L. Galán, C. Valencia, P. de la Torre, M.L. Cuadrado, J. Esteban, A. Guerrero, A. García-Redondo & J. Matías-Guiu. (2012) Mutación SOD1-N19S en una familia de esclerosis lateral amiotrófica. Neurología 27:1, pages 11-15.
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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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