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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 14, 2013 - Issue 7-8
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Genetics

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

Magdalena Kuźma-KozakiewiczDepartment of Neurology, Medical University of Warsaw;Neurodegenerative Diseases Research Group, Medical University of WarsawCorrespondence[email protected]
,
Mariusz BerdyńskiMossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
,
Mitsuya MoritaDepartment of Neurology, Jichi Medical University, Tochigi
,
Yuji TakahashiDepartment of Neurology, Graduate School of Medicine, University of Tokyo
,
Akihiro KawataDepartment of Neurology, Tokyo Metropolitan Neurological Hospital
,
Ken-Ichi KaidaDivision of Neurology, Department of Internal Medicine, National Defence Medical College, Tokorozawa, Saitama, Japan
,
Beata KaźmierczakNeurodegenerative Diseases Research Group, Medical University of Warsaw;Department of Biochemistry, Medical University of Warsaw, Warsaw, Poland
,
Anna ŁusakowskaDepartment of Neurology, Medical University of Warsaw
,
Jun GotoDepartment of Neurology, Graduate School of Medicine, University of Tokyo
,
Shoji TsujiDepartment of Neurology, Graduate School of Medicine, University of Tokyo
,
Cezary ŻekanowskiMossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
&
Hubert KwiecińskiDepartment of Neurology, Medical University of Warsaw
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Pages 608-614 | Received 25 Feb 2013, Accepted 25 May 2013, Published online: 30 Jul 2013

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Magdalena Kuźma-Kozakiewicz, Peter M. Andersen, Elahe Elahi, Afagh Alavi, Peter C. Sapp, Mitsuya Morita, Cezary Żekanowski & Mariusz Berdyński. (2021) Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:1-2, pages 80-85.
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Kazumoto Shibuya, Setsu Sawai, Atsuhiko Sugiyama, Mizuho Koide, Ayumi Nishiyama, Masashi Aoki & Satoshi Kuwabara. (2021) Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:1-2, pages 144-146.
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Articles from other publishers (4)

Mariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Sławomir Filipek, Cezary Żekanowski & Magdalena Kuźma-Kozakiewicz. (2022) SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. Scientific Reports 12:1.
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Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Tatsushi Toda & Shoji Tsuji. (2019) Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. Journal of Neurology, Neurosurgery & Psychiatry 90:5, pages 537-542.
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Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Akiko Ishii, Akira Tamaoka, Keiichi Hokkoku, Masahiro Sonoo, Mari Segawa, Yoshikazu Ugawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto & Shoji Tsuji. (2018) Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation. Neurobiology of Aging 61, pages 255.e9-255.e16.
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Kasper P. Kepp. (2015) Genotype-Property Patient-Phenotype Relations Suggest that Proteome Exhaustion Can Cause Amyotrophic Lateral Sclerosis. PLOS ONE 10:3, pages e0118649.
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