Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome.

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

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.

1. A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.Medicine · 2020
   Pooled it
2. Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.Molecular neurobiology · 2022
   Article
3. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.Orphanet journal of rare diseases · 2021
   Article
4. A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene.Frontiers in neurology · 2019
   Article
5. Movement disorders in mitochondrial disease.Journal of neurology · 2018
   Review
6. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.Journal of human genetics · 2018
   Article
7. Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen inFrontiers in genetics · 2018
   Review
8. Postmortem studies on mitochondria in schizophrenia.Schizophrenia research · 2017
   Review
9. Acute stress enhances the expression of neuroprotection- and neurogenesis-associated genes in the hippocampus of a mouse restraint model.Oncotarget · 2016
   Article
10. A multicenter study on Leigh syndrome: disease course and predictors of survival.Orphanet journal of rare diseases · 2014
    Article
11. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.American journal of human genetics · 2014
    Article
12. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.PloS one · 2014
    Article
13. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Genomics · 2013
    Article
14. Mitochondrial disease in childhood: nuclear encoded.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013
    Review
15. The power of yeast to model diseases of the powerhouse of the cell.Frontiers in bioscience (Landmark edition) · 2013
    Review
16. Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees.Neuromolecular medicine · 2010
    Article
17. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.Journal of medical genetics · 2010
    Article
18. SDH-related pheochromocytoma and paraganglioma.Best practice & research. Clinical endocrinology & metabolism · 2010
    Review
19. Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in Drosophila.Genetics · 2007
    Article
20. Optical and pharmacological tools to investigate the role of mitochondria during oxidative stress and neurodegeneration.Progress in neurobiology · 2006
    Review

Corrections and comments

• Comment on
  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.1998
• Comment on
  Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.1998

Authors and funding

1 author at 1 institution in 1 country.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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