SOD1 mutation can mask C9 orf72 abnormal expansion.
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| Title: | SOD1 mutation can mask C9 orf72 abnormal expansion. |
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| Authors: | Corcia, P., Blasco, H., Besson, G., Camdessanché, J. ‐ P., Pautot, V., Beltran, S., Couratier, P., Andres, C., Camu, W., Vourc'h, P. |
| Source: | European Journal of Neurology. Apr2017, Vol. 24 Issue 4, pe24-e24. 1p. |
| Subjects: | Motor neurons, Neurons, Genetic mutation, Amyotrophic lateral sclerosis, Neuromuscular diseases |
| Abstract: | The article focuses on a study about the potential toxic effect of N19S on the survival of motor neurons and the need for more evidence to support a pathogenic role for the mutation due to the absence of co-segregation in amyotrophic lateral sclerosis (AML). Topics discussed include the clinical data of the ALS cases with N19S mutation and the importance of the study result in daily medical practice and in the field of pre-symptomatic counselling. |
| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | The article focuses on a study about the potential toxic effect of N19S on the survival of motor neurons and the need for more evidence to support a pathogenic role for the mutation due to the absence of co-segregation in amyotrophic lateral sclerosis (AML). Topics discussed include the clinical data of the ALS cases with N19S mutation and the importance of the study result in daily medical practice and in the field of pre-symptomatic counselling. |
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| ISSN: | 13515101 |
| DOI: | 10.1111/ene.13257 |
