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Träfflista för sökning "WFRF:(Kacem Imen) "

Search: WFRF:(Kacem Imen)

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  • Kacem, Imen, et al. (author)
  • Early onset Parkinsonism associated with an intronic SOD1 mutation
  • 2012
  • In: Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders. - London : Informa Healthcare. - 1466-0822 .- 1743-4483. ; 13:3, s. 315-317
  • Journal article (peer-reviewed)abstract
    • We report on a patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age. He had no signs of lower motor neuron disease after four years of follow-up. All seven ALS patients from this family harboured a mutation located in the fourth intron of the SOD1 gene. The proband also harboured the same mutation, associated with a 40% decrease in SOD1 erythrocyte activity. This case report suggests that SOD1 mutations might be associated with marked phenotypic variability (ALS or early onset Parkinsonism in this family).
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Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Andersen, Peter M. (1)
Couratier, Philippe (1)
Funalot, Benoit (1)
Kacem, Imen (1)
Torny, Frederic (1)
Lautrette, Geraldine (1)
University
Umeå University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
2012 (1)

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