Associated Papers
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.
Osawa MT et al.
Pediatric Research, 2025
Biophysical analysis of an oligomerization-attenuated variant of the Leishmania donovani dynamin-1-like protein.
Wuyts E et al.
Molecular and Biochemical Parasitology, 2025
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
Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.
Baum TB et al.
Biorxiv : the Preprint Server for Biology, 2024
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation.
Ilamathi HS et al.
Iscience, 2023
Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population.
Liu J et al.
Frontiers in Neurology, 2023
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J et al.
Molecular Genetics and Metabolism Reports, 2021
A new automated tool to quantify nucleoid distribution within mitochondrial networks.
Ilamathi HS et al.
Scientific Reports, 2021
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Piccoli C et al.
Genes, 2021
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
Mitochondrial Dynamics Related Genes -MFN1, MFN2 and DRP1 Polymorphisms are Associated with Risk of Lung Cancer.
Liang X et al.
Pharmacogenomics and Personalized Medicine, 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 pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Tarailo-Graovac M et al.
Molecular Genetics & Genomic Medicine, 2019
Open and cut: allosteric motion and membrane fission by dynamin superfamily proteins.
Kalia R et al.
Molecular Biology of the Cell, 2019
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid SJ et al.
Neuropediatrics, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D et al.
Human Mutation, 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
Structural basis of mitochondrial receptor binding and constriction by DRP1.
Kalia R et al.
Nature, 2018
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF et al.
Brain : a Journal of Neurology, 2018
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2016
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
Vanstone JR et al.
European Journal of Human Genetics : Ejhg, 2016
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Sheffer R et al.
American Journal of Medical Genetics. Part A, 2016