Associated Papers
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.
Osawa MT et al.
Pediatric Research, 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
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
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
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
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
Sharma G et al.
Biology, 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
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.
Liu X et al.
Frontiers in Pediatrics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.
Douiev L et al.
Cells, 2020
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Longo F et al.
Human Molecular Genetics, 2020
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
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
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
Complete mutational spectrum of the autophagy interactome: a novel class of tumor suppressor genes in myeloid neoplasms.
Visconte V et al.
Leukemia, 2017
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