Associated Papers
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
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
35914810 (PubMed )
Supplement: LSA-2021-01284_TableS1.xlsx › Sheet1
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.
Liu X et al.
Frontiers in Pediatrics, 2021
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D et al.
Human Mutation, 2019
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