Associated Papers
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant: Time for Acute Genetic Testing Before Treatment?
Indelicato E et al.
Neurology. Genetics, 2023
Mitochondrial Base Editing: Recent Advances towards Therapeutic Opportunities.
Kar B et al.
International Journal of Molecular Sciences, 2023
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Garret P et al.
Human Mutation, 2019
Expanding the clinical spectrum of MTTF mutations.
Barcia G et al.
Molecular Genetics and Metabolism Reports, 2019
Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?
Zhang AM et al.
Plos One, 2011
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