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000165577 041__ $$aEnglish
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000165577 1001_ $$aOpie-Martin, Sarah$$b0
000165577 245__ $$aThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
000165577 260__ $$a[London]$$bNature Publishing Group UK$$c2022
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000165577 520__ $$aSuperoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a further eight associated with younger onset only and one with distinct survival only. Here we show that onset and survival are decoupled in SOD1-ALS. Future research should characterise rarer variants and molecular mechanisms causing the observed variability.
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000165577 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase-1
000165577 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase
000165577 650_7 $$2NLM Chemicals$$aSOD1 protein, human
000165577 650_2 $$2MeSH$$aHumans
000165577 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000165577 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000165577 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: epidemiology
000165577 650_2 $$2MeSH$$aSuperoxide Dismutase: genetics
000165577 650_2 $$2MeSH$$aPhenotype
000165577 650_2 $$2MeSH$$aMutation
000165577 7001_ $$00000-0002-5280-5017$$aIacoangeli, Alfredo$$b1
000165577 7001_ $$00000-0002-5200-3284$$aTopp, Simon D$$b2
000165577 7001_ $$aAbel, Olubunmi$$b3
000165577 7001_ $$aMayl, Keith$$b4
000165577 7001_ $$00000-0002-0255-407X$$aMehta, Puja R$$b5
000165577 7001_ $$aShatunov, Aleksey$$b6
000165577 7001_ $$aFogh, Isabella$$b7
000165577 7001_ $$aBowles, Harry$$b8
000165577 7001_ $$00000-0002-0200-4676$$aLimbachiya, Naomi$$b9
000165577 7001_ $$aSpargo, Thomas P$$b10
000165577 7001_ $$00000-0002-7406-9831$$aAl-Khleifat, Ahmad$$b11
000165577 7001_ $$00000-0001-6319-9473$$aWilliams, Kelly L$$b12
000165577 7001_ $$aJockel-Balsarotti, Jennifer$$b13
000165577 7001_ $$aBali, Taha$$b14
000165577 7001_ $$00000-0003-1648-6124$$aSelf, Wade$$b15
000165577 7001_ $$00000-0001-5541-7637$$aHenden, Lyndal$$b16
000165577 7001_ $$00000-0001-9694-066X$$aNicholson, Garth A$$b17
000165577 7001_ $$00000-0001-5963-7426$$aTicozzi, Nicola$$b18
000165577 7001_ $$aMcKenna-Yasek, Diane$$b19
000165577 7001_ $$aTang, Lu$$b20
000165577 7001_ $$00000-0002-8925-2567$$aShaw, Pamela J$$b21
000165577 7001_ $$aChio, Adriano$$b22
000165577 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert$$b23$$udzne
000165577 7001_ $$0P:(DE-2719)9000455$$aWeishaupt, Jochen H$$b24$$udzne
000165577 7001_ $$00000-0001-8084-5043$$aLanders, John E$$b25
000165577 7001_ $$00000-0002-3295-4971$$aGlass, Jonathan D$$b26
000165577 7001_ $$00000-0001-6633-5354$$aMora, Jesus S$$b27
000165577 7001_ $$aRobberecht, Wim$$b28
000165577 7001_ $$00000-0002-4010-2357$$aDamme, Philip Van$$b29
000165577 7001_ $$00000-0003-3915-2135$$aMcLaughlin, Russell$$b30
000165577 7001_ $$aHardiman, Orla$$b31
000165577 7001_ $$avan den Berg, Leonard$$b32
000165577 7001_ $$00000-0001-5572-9657$$aVeldink, Jan H$$b33
000165577 7001_ $$aCorcia, Phillippe$$b34
000165577 7001_ $$aStevic, Zorica$$b35
000165577 7001_ $$aSiddique, Nailah$$b36
000165577 7001_ $$aSilani, Vincenzo$$b37
000165577 7001_ $$aBlair, Ian P$$b38
000165577 7001_ $$aFan, Dong-Sheng$$b39
000165577 7001_ $$aEsselin, Florence$$b40
000165577 7001_ $$00000-0003-3345-1628$$ade la Cruz, Elisa$$b41
000165577 7001_ $$00000-0003-1287-7355$$aCamu, William$$b42
000165577 7001_ $$aBasak, Nazli A$$b43
000165577 7001_ $$00000-0001-7293-9146$$aSiddique, Teepu$$b44
000165577 7001_ $$aMiller, Timothy$$b45
000165577 7001_ $$00000-0001-6062-1528$$aBrown, Robert H$$b46
000165577 7001_ $$00000-0002-4924-7712$$aAl-Chalabi, Ammar$$b47
000165577 7001_ $$aShaw, Christopher E$$b48
000165577 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-022-34620-y$$gVol. 13, no. 1, p. 6901$$n1$$p6901$$tNature Communications$$v13$$x2041-1723$$y2022
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