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@ARTICLE{OpieMartin:165577,
      author       = {Opie-Martin, Sarah and Iacoangeli, Alfredo and Topp, Simon
                      D and Abel, Olubunmi and Mayl, Keith and Mehta, Puja R and
                      Shatunov, Aleksey and Fogh, Isabella and Bowles, Harry and
                      Limbachiya, Naomi and Spargo, Thomas P and Al-Khleifat,
                      Ahmad and Williams, Kelly L and Jockel-Balsarotti, Jennifer
                      and Bali, Taha and Self, Wade and Henden, Lyndal and
                      Nicholson, Garth A and Ticozzi, Nicola and McKenna-Yasek,
                      Diane and Tang, Lu and Shaw, Pamela J and Chio, Adriano and
                      Ludolph, Albert and Weishaupt, Jochen H and Landers, John E
                      and Glass, Jonathan D and Mora, Jesus S and Robberecht, Wim
                      and Damme, Philip Van and McLaughlin, Russell and Hardiman,
                      Orla and van den Berg, Leonard and Veldink, Jan H and
                      Corcia, Phillippe and Stevic, Zorica and Siddique, Nailah
                      and Silani, Vincenzo and Blair, Ian P and Fan, Dong-Sheng
                      and Esselin, Florence and de la Cruz, Elisa and Camu,
                      William and Basak, Nazli A and Siddique, Teepu and Miller,
                      Timothy and Brown, Robert H and Al-Chalabi, Ammar and Shaw,
                      Christopher E},
      title        = {{T}he {SOD}1-mediated {ALS} phenotype shows a decoupling
                      between age of symptom onset and disease duration.},
      journal      = {Nature Communications},
      volume       = {13},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DZNE-2022-01717},
      pages        = {6901},
      year         = {2022},
      abstract     = {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.},
      keywords     = {Humans / Superoxide Dismutase-1: genetics / Amyotrophic
                      Lateral Sclerosis: genetics / Amyotrophic Lateral Sclerosis:
                      epidemiology / Superoxide Dismutase: genetics / Phenotype /
                      Mutation / Superoxide Dismutase-1 (NLM Chemicals) /
                      Superoxide Dismutase (NLM Chemicals) / SOD1 protein, human
                      (NLM Chemicals)},
      cin          = {Clinical Study Center Ulm},
      ddc          = {500},
      cid          = {I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36371497},
      pmc          = {pmc:PMC9653399},
      doi          = {10.1038/s41467-022-34620-y},
      url          = {https://pub.dzne.de/record/165577},
}