Magistrati M et al. De Novo DNM1L pathogenic variant associated with lethal encephalocardiomyopathy – Case report and literature review. Int J Mol Sci. 2025;26,846. PMID: 39859560.
Zhang Z et al. A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review. BMC Pediatrics. 2024;24:104 PMID: 38341530.
Wei Y and Qian M. Case report: A novel de novo mutation in DNM1L presenting with developmental delay, ataxia, and peripheral neuropathy. Front Ped. 9:604105 PMID: 33718295.
Berti B et al. De Novo DNM1L mutation in a patient with encephalopathy, cardiomyopathy and fatal non-epileptic paroxysmal refractory vomiting. Int J Mol Sci. 2024;25,7782 PMID: 39063023.
Nolden K et al. Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance. 2022;5(12):e202101284 PMID: 35914810.
Liu X et al. DNM1L-related mitochondrial fission defects presenting as encephalopathy: A case report and literature review. Front Ped. 9:626657 PMID: 34307245.
Keller N et al. De Novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. EJMG. 2021;64:104134 PMID: 33387674.
Mancardi M et al. Focal status and acute encephalopathy in a 13-year old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis. Brain&Devt. 2021;43:644-651 PMID: 33485697.
Douiev L et al. Bezafibrate improves mitochondrial fission and function in DNM1L-deficient patient cells. Cells. 2020;9,301 PMID: 32012656.
Tarailo-Graovac M et al. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Mol Genet & Genomic Med. 2019;7:e961 PMID: 31475481.
Ladds E et al. De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity. Neurol Genet. 2018;4:e258 PMID: 30109270.
Vanstone J et al. DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. EJHG. 2016;24:1084-1088 PMID: 26604000.
Sheffer R et al. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Am J Med Genet A. 2016 Jun;170(6):1603-7 PMID: 26992161.
Waterham HR, et al. A lethal defect of mitochondrial and peroxisomal fission. N Eng J Med 2007; 356: 1736–1741 PMID: 17460227.