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024 7 _ |a 10.1038/s41467-022-34620-y
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037 _ _ |a DZNE-2022-01717
041 _ _ |a English
082 _ _ |a 500
100 1 _ |a Opie-Martin, Sarah
|b 0
245 _ _ |a The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
260 _ _ |a [London]
|c 2022
|b Nature Publishing Group UK
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520 _ _ |a Superoxide 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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650 _ 7 |a Superoxide Dismutase-1
|0 EC 1.15.1.1
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650 _ 7 |a Superoxide Dismutase
|0 EC 1.15.1.1
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650 _ 7 |a SOD1 protein, human
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Superoxide Dismutase-1: genetics
|2 MeSH
650 _ 2 |a Amyotrophic Lateral Sclerosis: genetics
|2 MeSH
650 _ 2 |a Amyotrophic Lateral Sclerosis: epidemiology
|2 MeSH
650 _ 2 |a Superoxide Dismutase: genetics
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
700 1 _ |a Iacoangeli, Alfredo
|0 0000-0002-5280-5017
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700 1 _ |a Topp, Simon D
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700 1 _ |a Abel, Olubunmi
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700 1 _ |a Mayl, Keith
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700 1 _ |a Mehta, Puja R
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700 1 _ |a Shatunov, Aleksey
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700 1 _ |a Fogh, Isabella
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700 1 _ |a Bowles, Harry
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700 1 _ |a Limbachiya, Naomi
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700 1 _ |a Spargo, Thomas P
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700 1 _ |a Al-Khleifat, Ahmad
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700 1 _ |a Williams, Kelly L
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700 1 _ |a Jockel-Balsarotti, Jennifer
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700 1 _ |a Bali, Taha
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700 1 _ |a Self, Wade
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700 1 _ |a Henden, Lyndal
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700 1 _ |a Nicholson, Garth A
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700 1 _ |a Ticozzi, Nicola
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700 1 _ |a McKenna-Yasek, Diane
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700 1 _ |a Tang, Lu
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700 1 _ |a Shaw, Pamela J
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700 1 _ |a Chio, Adriano
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700 1 _ |a Ludolph, Albert
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700 1 _ |a Weishaupt, Jochen H
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700 1 _ |a Landers, John E
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700 1 _ |a Glass, Jonathan D
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700 1 _ |a Mora, Jesus S
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700 1 _ |a Robberecht, Wim
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700 1 _ |a Damme, Philip Van
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700 1 _ |a McLaughlin, Russell
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700 1 _ |a Hardiman, Orla
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700 1 _ |a van den Berg, Leonard
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700 1 _ |a Veldink, Jan H
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700 1 _ |a Corcia, Phillippe
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700 1 _ |a Stevic, Zorica
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700 1 _ |a Siddique, Nailah
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700 1 _ |a Silani, Vincenzo
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700 1 _ |a Blair, Ian P
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700 1 _ |a Fan, Dong-Sheng
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700 1 _ |a Esselin, Florence
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700 1 _ |a de la Cruz, Elisa
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700 1 _ |a Camu, William
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700 1 _ |a Basak, Nazli A
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700 1 _ |a Siddique, Teepu
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700 1 _ |a Miller, Timothy
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700 1 _ |a Brown, Robert H
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700 1 _ |a Al-Chalabi, Ammar
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700 1 _ |a Shaw, Christopher E
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773 _ _ |a 10.1038/s41467-022-34620-y
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