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SOD1 mutation can mask C9 orf72 abnormal expansion.

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Title: SOD1 mutation can mask C9 orf72 abnormal expansion.
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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Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 121990449
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: SOD1 mutation can mask C9 orf72 abnormal expansion.
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  Data: <searchLink fieldCode="AR" term="%22Corcia%2C+P%2E%22">Corcia, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Blasco%2C+H%2E%22">Blasco, H.</searchLink><br /><searchLink fieldCode="AR" term="%22Besson%2C+G%2E%22">Besson, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Camdessanché%2C+J%2E+‐+P%2E%22">Camdessanché, J. ‐ P.</searchLink><br /><searchLink fieldCode="AR" term="%22Pautot%2C+V%2E%22">Pautot, V.</searchLink><br /><searchLink fieldCode="AR" term="%22Beltran%2C+S%2E%22">Beltran, S.</searchLink><br /><searchLink fieldCode="AR" term="%22Couratier%2C+P%2E%22">Couratier, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Andres%2C+C%2E%22">Andres, C.</searchLink><br /><searchLink fieldCode="AR" term="%22Camu%2C+W%2E%22">Camu, W.</searchLink><br /><searchLink fieldCode="AR" term="%22Vourc'h%2C+P%2E%22">Vourc'h, P.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Apr2017, Vol. 24 Issue 4, pe24-e24. 1p.
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  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Motor+neurons%22">Motor neurons</searchLink><br /><searchLink fieldCode="DE" term="%22Neurons%22">Neurons</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Amyotrophic+lateral+sclerosis%22">Amyotrophic lateral sclerosis</searchLink><br /><searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=121990449
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        Value: 10.1111/ene.13257
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        Text: English
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        PageCount: 1
        StartPage: e24
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      – SubjectFull: Motor neurons
        Type: general
      – SubjectFull: Neurons
        Type: general
      – SubjectFull: Genetic mutation
        Type: general
      – SubjectFull: Amyotrophic lateral sclerosis
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      – SubjectFull: Neuromuscular diseases
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      – TitleFull: SOD1 mutation can mask C9 orf72 abnormal expansion.
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              M: 04
              Text: Apr2017
              Type: published
              Y: 2017
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