Janet Carver
Oxford, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 8 publications
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
Journal: Frontiers in cell and developmental biology
Published: July 17, 2023
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.
Journal: Neurology. Genetics
Published: February 05, 2018
Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation.
Journal: Frontiers in cell and developmental biology
Published: November 14, 2017
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Journal: Neurology
Published: July 05, 2016
Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.
Journal: Biochemical Society transactions
Published: April 05, 2016
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
Journal: Neurology
Published: June 09, 2015
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.
Journal: Pharmacological research
Published: March 31, 2015
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Journal: European journal of human genetics : EJHG
Published: November 09, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026