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Association of NIPA...
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
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Tazelaar, Gijs H. P. (author)
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Dekker, Annelot M. (author)
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van Vugt, Joke J. F. A. (author)
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van der Spek, Rick A. (author)
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Westeneng, Henk-Jan (author)
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Kool, Lindy J. B. G. (author)
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Kenna, Kevin P. (author)
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van Rheenen, Wouter (author)
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Pulit, Sara L. (author)
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McLaughlin, Russell L. (author)
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Sproviero, William (author)
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Iacoangeli, Alfredo (author)
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Huebers, Annemarie (author)
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Brenner, David (author)
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Morrison, Karen E. (author)
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Shaw, Pamela J. (author)
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Shaw, Christopher E. (author)
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Povedano Panades, Monica (author)
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Mora Pardina, Jesus S. (author)
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Glass, Jonathan D. (author)
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Hardiman, Orla (author)
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Al-Chalabi, Ammar (author)
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van Damme, Philip (author)
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Robberecht, Wim (author)
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Landers, John E. (author)
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Ludolph, Albert C. (author)
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Weishaupt, Jochen H. (author)
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van den Berg, Leonard H. (author)
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Veldink, Jan H. (author)
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van Es, Michael A. (author)
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- Andersen, Peter M., 1962- (contributor)
- Umeå universitet,Institutionen för farmakologi och klinisk neurovetenskap,Project MinE ALS Sequencing Consortium
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(creator_code:org_t)
- Elsevier, 2019
- 2019
- English.
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In: Neurobiology of Aging. - : Elsevier. - 0197-4580 .- 1558-1497. ; 74, s. 234.e9-234.e15
- Related links:
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http://eprints.white...
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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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- NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously, a genomewide screen for copy number variants found an association with rare deletions in NIPA1 and ALS, and subsequent genetic analyses revealed that long (or expanded) polyalanine repeats in NIPA1 convey increased ALS susceptibility. We set out to perform a large-scale replication study to further investigate the role of NIPA1 polyalanine expansions with ALS, in which we characterized NIPA1 repeat size in an independent international cohort of 3955 patients with ALS and 2276 unaffected controls and combined our results with previous reports. Meta-analysis on a total of 6245 patients with ALS and 5051 controls showed an overall increased risk of ALS in those with expanded (>8) GCG repeat length (odds ratio = 1.50, p = 3.8×10−5). Together with previous reports, these findings provide evidence for an association of an expanded polyalanine repeat in NIPA1 and ALS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Amyotrophic lateral sclerosis
- NIPA1
- Repeat expansion
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Tazelaar, Gijs H ...
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Dekker, Annelot ...
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van Vugt, Joke J ...
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van der Spek, Ri ...
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Westeneng, Henk- ...
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Kool, Lindy J. B ...
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show more...
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Kenna, Kevin P.
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van Rheenen, Wou ...
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Pulit, Sara L.
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McLaughlin, Russ ...
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Sproviero, Willi ...
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Iacoangeli, Alfr ...
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Huebers, Annemar ...
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Brenner, David
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Morrison, Karen ...
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Shaw, Pamela J.
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Shaw, Christophe ...
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Povedano Panades ...
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Mora Pardina, Je ...
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Glass, Jonathan ...
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Hardiman, Orla
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Al-Chalabi, Amma ...
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van Damme, Phili ...
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Robberecht, Wim
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Landers, John E.
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Ludolph, Albert ...
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Weishaupt, Joche ...
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van den Berg, Le ...
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Veldink, Jan H.
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van Es, Michael ...
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Andersen, Peter ...
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- 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
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Neurobiology of ...
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Umeå University