NEK1 mutations in familial amyotrophic lateral sclerosis: letter to the editor
Sir, Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons. Five to 10% of all ALS cases are familial ALS. To date, more than 20 genes have been implicated in causing familial ALS, with the discovery of mutations in CHCHD10 ( Ban...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) Editorial |
| Sprache: | Englisch |
| Veröffentlicht: |
05 March 2016
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| In: |
Brain
Year: 2016, Jahrgang: 139, Heft: 5, Pages: 1-4 |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/aww033 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/aww033
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| Verfasserangaben: | David Brenner, Kathrin Müller, Thomas Wieland, Patrick Weydt, Sarah Böhm, Dorothée Lulé, Annemarie Hübers, Christoph Neuwirth, Markus Weber, Guntram Borck, Magnus Wahlqvist, Karin M. Danzer, Alexander E. Volk, Thomas Meitinger, Tim M. Strom, Markus Otto, Jan Kassubek, Albert C. Ludolph, Peter M. Andersen and Jochen H. Weishaupt |
MARC
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| 520 | |a Sir, Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons. Five to 10% of all ALS cases are familial ALS. To date, more than 20 genes have been implicated in causing familial ALS, with the discovery of mutations in CHCHD10 ( Bannwarth et al. , 2014 ) and TBK1 ( Cirulli et al. , 2015 ; Freischmidt et al. , 2015 ) representing the latest examples for monogenic causes of ALS. Most recently, whole exome sequencing of ALS patients suggested an association of heterozygous loss-of-function mutations in NEK1 with ALS. However, this observation was made in a cohort of mostly sporadic patients, and the result was only significant in a combined analysis of the discovery and the replication cohort ( Cirulli et al. , 2015 ), making further validation essential. | ||
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