ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
2016 · Nature Communications · 146 citations
https://doi.org/10.1038/ncomms11600
R
Richard J. Rodenburg
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Richard J. Rodenburg is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Mitochondrial Function and Pathology & Metabolism and Genetic Disorders & ATP Synthase and ATPases Research. The author has an h-index of 74, co-authored 320 publications.
ORCID: 0000-0001-5227-3527Papers by this author
worksm.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
2020 · Cell Reports · 86 citations
https://doi.org/10.1016/j.celrep.2020.107538
Major depression in adolescent children consecutively diagnosed with mitochondrial disorder
2008 · Journal of Affective Disorders · 85 citations
https://doi.org/10.1016/j.jad.2008.06.023
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
2014 · The American Journal of Human Genetics · 76 citations
https://doi.org/10.1016/j.ajhg.2014.08.003
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia
2018 · Molecular Genetics and Metabolism Reports · 46 citations
https://doi.org/10.1016/j.ymgmr.2018.03.004
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice
2020 · Translational Psychiatry · 45 citations
https://doi.org/10.1038/s41398-020-0858-y
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