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No GGGGCC-hexanucle...
No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden
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- Akimoto, Chizuru (author)
- Umeå universitet,Klinisk neurovetenskap
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- Forsgren, Lars (author)
- Umeå universitet,Klinisk neurovetenskap
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- Linder, Jan (author)
- Umeå universitet,Klinisk neurovetenskap
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- Birve, Anna, 1968- (author)
- Umeå universitet,Klinisk neurovetenskap
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- Backlund, Irene (author)
- Umeå universitet,Klinisk neurovetenskap
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- Andersson, Jörgen (author)
- Umeå universitet,Klinisk neurovetenskap
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- Nilsson, Ann-Charloth (author)
- Umeå universitet,Klinisk neurovetenskap
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- Alstermark, Helena (author)
- Umeå universitet,Klinisk neurovetenskap
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- Andersen, Peter M (author)
- Umeå universitet,Klinisk neurovetenskap
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(creator_code:org_t)
- 2012-09-17
- 2013
- English.
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In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Informa Healthcare. - 2167-8421 .- 2167-9223. ; 14:1, s. 26-29
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.3...
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Abstract
Subject headings
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- An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study we examined if the hexanucleotide repeat expansion was present in parkinsonism patients, to clarify if there could be a relationship between the repeat expansion and disease. We studied the size of the hexanucleotide repeat expansion in a well defined population-based cohort of 135 Parkinson's disease patients and 39 patients with atypical parkinsonism and compared with 645 Swedish control subjects. We found no correlation between Parkinson's disease or atypical parkinsonism and the size of the GGGGCC repeat expansion in C9ORF72. In conclusion, this GGGGCC-repeat expansion in C9ORF72 is not a cause of parkinsonism in the Swedish population.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- C9ORF72
- Parkinson's disease (PD)
- multiple system atrophy (MSA)
- progressive supranuclear palsy (PSP)
- hexanucleotide repeat expansion
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Akimoto, Chizuru
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Forsgren, Lars
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Linder, Jan
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Birve, Anna, 196 ...
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Backlund, Irene
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Andersson, Jörge ...
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show more...
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Nilsson, Ann-Cha ...
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Alstermark, Hele ...
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Andersen, Peter ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Amyotrophic Late ...
- By the university
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Umeå University