Sökning: WFRF:(Glass D) > The Effect of SMN G...
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000 | 04209naa a2200745 4500 | |
001 | oai:DiVA.org:umu-179430 | |
003 | SwePub | |
008 | 210204s2021 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1794302 URI |
024 | 7 | a https://doi.org/10.1002/ana.260092 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Moisse, Matthieu4 aut |
245 | 1 0 | a The Effect of SMN Gene Dosage on ALS Risk and Disease Severity |
264 | c 2021-01-15 | |
264 | 1 | b John Wiley & Sons,c 2021 |
338 | a electronic2 rdacarrier | |
520 | a Objective: The role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency.Methods: In this largest multicenter case control study to evaluate the effect of SMN1 and SMN2 copy numbers in ALS, we used whole genome sequencing data from Project MinE data freeze 2. SMN copy numbers of 6,375 patients with ALS and 2,412 controls were called from whole genome sequencing data, and the reliability of the calls was tested with multiplex ligation-dependent probe amplification data.Results: The copy number distribution of SMN1 and SMN2 between cases and controls did not show any statistical differences (binomial multivariate logistic regression SMN1 p = 0.54 and SMN2 p = 0.49). In addition, the copy number of SMN did not associate with patient survival (Royston-Parmar; SMN1 p = 0.78 and SMN2 p = 0.23) or age at onset (Royston-Parmar; SMN1 p = 0.75 and SMN2 p = 0.63).Interpretation: In our well-powered study, there was no association of SMN1 or SMN2 copy numbers with the risk of ALS or ALS disease severity. This suggests that changing SMN protein levels in the physiological range may not modify ALS disease course. This is an important finding in the light of emerging therapies targeted at SMN deficiencies. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
700 | 1 | a Zwamborn, Ramona A. J.4 aut |
700 | 1 | a van Vugt, Joke4 aut |
700 | 1 | a van Der Spek, Rick4 aut |
700 | 1 | a van Rheenen, Wouter4 aut |
700 | 1 | a Kenna, Brendan4 aut |
700 | 1 | a Van Eijk, Kristel4 aut |
700 | 1 | a Kenna, Kevin4 aut |
700 | 1 | a Corcia, Philippe4 aut |
700 | 1 | a Couratier, Philippe4 aut |
700 | 1 | a Vourc'h, Patrick4 aut |
700 | 1 | a Hardiman, Orla4 aut |
700 | 1 | a McLaughin, Russell4 aut |
700 | 1 | a Gotkine, Marc4 aut |
700 | 1 | a Drory, Vivian4 aut |
700 | 1 | a Ticozzi, Nicola4 aut |
700 | 1 | a Silani, Vincenzo4 aut |
700 | 1 | a de Carvalho, Mamede4 aut |
700 | 1 | a Mora Pardina, Jesús S.4 aut |
700 | 1 | a Povedano, Monica4 aut |
700 | 1 | a Andersen, Peter M.,d 1962-u Umeå universitet,Neurovetenskaper4 aut0 (Swepub:umu)pean0001 |
700 | 1 | a Weber, Markus4 aut |
700 | 1 | a Basak, Nazli A.4 aut |
700 | 1 | a Chen, Xiao4 aut |
700 | 1 | a Eberle, Michael A.4 aut |
700 | 1 | a Al-Chalabi, Ammar4 aut |
700 | 1 | a Shaw, Chris4 aut |
700 | 1 | a Shaw, Pamela J.4 aut |
700 | 1 | a Morrison, Karen E.4 aut |
700 | 1 | a Landers, John E.4 aut |
700 | 1 | a Glass, Jonathan D.4 aut |
700 | 1 | a Robberecht, Wim4 aut |
700 | 1 | a van Es, Michael4 aut |
700 | 1 | a van den Berg, Leonard4 aut |
700 | 1 | a Veldink, Jan4 aut |
700 | 1 | a Van Damme, Philip4 aut |
710 | 2 | a Umeå universitetb Neurovetenskaper4 org |
773 | 0 | t Annals of Neurologyd : John Wiley & Sonsg 89:4, s. 686-697q 89:4<686-697x 0364-5134x 1531-8249 |
856 | 4 | u https://doi.org/10.1002/ana.26009y Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:1525569/FULLTEXT02.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.26009 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-179430 |
856 | 4 8 | u https://doi.org/10.1002/ana.26009 |
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