Associated Papers
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
Paroxysmal nocturnal dystonia in DNM1L-related syndrome.
Stretavská P et al.
Parkinsonism & Related Disorders, 2025
Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.
Baum TB et al.
Biorxiv : the Preprint Server for Biology, 2024
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Lhuissier C et al.
Frontiers in Neurology, 2022
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Nasca A et al.
Human Mutation, 2016
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