@article{AlstonHeidlerDibleyetal.2018,
  author    = {Charlotte Alston and Juliana Heidler and Marris G. Dibley and Laura S. Kremer and Lucie S. Taylor and Carl Fratter and Courtney E. French and Ruth I. C. Glasgow and Ren{\´e} G. Feichtinger and Isabelle Delon and Alistair T. Pagnamenta and Helen Dolling and Hugh Lemonde and Neil Aiton and Alf Bjornstad and Lisa Henneke and Jutta G{\"a}rtner and Holger Thiele and Katerina Tauchmannova and Gerardine Quaghebeur and Josef Houstek and Wolfgang Sperl and Lucy Raymond and Holger Prokisch and Johannes A. Mayr and Robert McFarland and Joanna Poulton and Michael T. Ryan and Ilka Wittig and Marco Henneke and Robert W. Taylor},
  title     = {Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency},
  journal   = {American journal of human genetics},
  volume    = {103},
  number    = {4},
  pages     = {592 -- 601},
  doi       = {10.1016/j.ajhg.2018.08.013},
  year      = {2018},
}