Associated Papers
Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.
Zhang Z et al.
Bmc Pediatrics, 2025
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.
Osawa MT et al.
Pediatric Research, 2025
40269254 (PubMed )
Supplement: 41390_2025_4045_MOESM16_ESM.pdf
Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.
Manting X et al.
Frontiers in Pediatrics, 2025
Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.
Baum TB et al.
Biorxiv : the Preprint Server for Biology, 2024
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.
Zhang Z et al.
Bmc Pediatrics, 2024
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
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