ReviewJournal of neurology2016
Mitochondrial disease: genetics and management.
Review in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
106 citing papers in PubMed, 167 citations in OpenAlex.
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Type B Lactic Acidosis: Diagnosis, Etiology and Treatment - An Educational Review.Cardiology research · 2026Review
- The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Article
- Karnofsky performance scale and modified Rankin scale as indicators of functional capacity in patients with mitochondrial disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Effects of an indole chemical, mitochonic acid 5, in a mouse model of mitochondrial disease onset.Scientific reports · 2026Article
- Clinical Heterogeneity and Candidate Biomarkers inNeurology. Genetics · 2026Article
- A full-length mtDNA dataset for studying genetic variations across generations and complex family structures.Scientific data · 2026Article
- Article
- Rethinking mitochondrial isolation for the next generation of mitochondrial therapies.Frontiers in physiology · 2026Review
- Mitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency.Cureus · 2025Article
- Mitochondrial disease management through phytochemical interventions.Molecular and cellular biochemistry · 2025Review
- Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.Intractable & rare diseases research · 2025Review
- In vivo mitochondrial base editing restores genotype and visual function in a mouse model of LHON.Nature communications · 2025Article
- Fatal Presentation of Leigh Syndrome in a Neonate: Comprehensive Neuroimaging Findings With MT-ND5 Mutation.Cureus · 2025Article
- Meclizine rescues cardiac function and mitochondrial ultrastructure by ATP- and glycolysis-independent mechanisms in a genetic model of mitochondrial energy dysfunction.bioRxiv : the preprint server for biology · 2025Article
- Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.Children (Basel, Switzerland) · 2025Article
- Endosomal RFFL ubiquitin ligase regulates mitochondrial morphology by targeting mitofusin 2.Journal of cell science · 2025Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.