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1.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
2.
la Piana, R.* et al.: Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 86, 1622-1626 (2016)
3.
Huemer, M.* et al.: Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J. Inherit. Metab. Dis. 38, 905-914 (2015)
4.
Dallabona, C.* et al.: Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-2071 (2014)