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
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Magistrati M et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.
Manting X et al.
Frontiers in Pediatrics, 2025
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy.
Wei Y et al.
Frontiers in Pediatrics, 2021
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.
Liu X et al.
Frontiers in Pediatrics, 2021
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Assia Batzir N et al.
Cold Spring Harbor Molecular Case Studies, 2019
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid SJ et al.
Neuropediatrics, 2019
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Whitley BN et al.
Human Molecular Genetics, 2018
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Ryan CS et al.
Journal of Child Neurology, 2018
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF et al.
Brain : a Journal of Neurology, 2018
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Chao YH et al.
Human Molecular Genetics, 2016
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