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1.
Brockmann, S.J.* et al.: CHCHD10 mutations p. R15L and p. G66V cause motoneuron disease by haploinsufficiency. Hum. Mol. Genet. 27, 706-715 (2018)
2.
Cooper, H.M.* et al.: ATPase-deficient mitochondrial inner membrane protein ATAD3a disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. Hum. Mol. Genet. 26, 1432-1443 (2017)
3.
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)