Associated Papers
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
Sonsalla G et al.
Neuron, 2024
38266647 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Feichtinger RG et al.
Oxidative Medicine and Cellular Longevity, 2017
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