Associated Papers
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM2_ESM.xlsx › sanger_validation
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Ortega-Recalde O et al.
Mitochondrion, 2013
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.
Voets AM et al.
Biochimica Et Biophysica Acta, 2012
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
Morán M et al.
Biochimica Et Biophysica Acta, 2010
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