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1.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
2.
Alston, C.L.* et al.: A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J. Med. Genet. 53, 634-641 (2016)
3.
Ahting, U.* et al.: Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency. Front. Genet. 6:123 (2015)
4.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)