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Polymorphisms in th...
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
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Bogaert, Elke (author)
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Goris, An (author)
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Van Damme, Philip (author)
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Geelen, Veerle (author)
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Lemmens, Robin (author)
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van Es, Michael A (author)
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van den Berg, Leonard H (author)
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Sleegers, Kristel (author)
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Verpoorten, Nathalie (author)
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Timmerman, Vincent (author)
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Jonghe, Peter De (author)
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Van Broeckhoven, Christine (author)
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Traynor, Bryan J (author)
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Landers, John E (author)
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Brown, Robert H (author)
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Glass, Jonathan D (author)
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Al-Chalabi, Ammar (author)
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Shaw, Christopher E (author)
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- Birve, Anna (author)
- Umeå universitet,Klinisk neurovetenskap
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- Andersen, Peter M (author)
- Umeå universitet,Klinisk neurovetenskap
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Slowik, Agnieszka (author)
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Tomik, Barbara (author)
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Melki, Judith (author)
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Robberecht, Wim (author)
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Van Den Bosch, Ludo (author)
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(creator_code:org_t)
- Elsevier BV, 2012
- 2012
- English.
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In: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 33:2, s. 418-420
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Excitotoxicity is thought to play a pathogenic role in amyotrophic lateral sclerosis (ALS). Excitotoxic motor neuron death is mediated through the Ca(2+)-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-type of glutamate receptors and Ca(2+) permeability is determined by the GluR2 subunit. We investigated whether polymorphisms or mutations in the GluR2 gene (GRIA2) predispose patients to ALS. Upon sequencing 24 patients and 24 controls no nonsynonymous coding variants were observed but 24 polymorphisms were identified, 9 of which were novel. In a screening set of 310 Belgian ALS cases and 794 healthy controls and a replication set of 3157 cases and 5397 controls from 6 additional populations no association with susceptibility, age at onset, or disease duration was observed. We conclude that polymorphisms in the GluR2 gene (GRIA2) are not a major contributory factor in the pathogenesis of ALS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Amyotrophic lateral sclerosis; Excitotoxicity; GluR2; Motor neuron
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Bogaert, Elke
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Goris, An
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Van Damme, Phili ...
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Geelen, Veerle
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Lemmens, Robin
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van Es, Michael ...
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show more...
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van den Berg, Le ...
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Sleegers, Kriste ...
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Verpoorten, Nath ...
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Timmerman, Vince ...
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Jonghe, Peter De
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Van Broeckhoven, ...
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Traynor, Bryan J
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Landers, John E
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Brown, Robert H
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Glass, Jonathan ...
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Al-Chalabi, Amma ...
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Shaw, Christophe ...
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Birve, Anna
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Andersen, Peter ...
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Slowik, Agnieszk ...
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Tomik, Barbara
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Melki, Judith
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Robberecht, Wim
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Van Den Bosch, L ...
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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 Clinical Medicin ...
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and Neurology
- Articles in the publication
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Neurobiology of ...
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Umeå University