ArticleJournal of neuromuscular diseases2014
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the
Article in Journal of neuromuscular diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss.FEBS open bio · 2025Article
- Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency.Disease models & mechanisms · 2025Article
- [Combined oxidative phosphorylation deficiency type 7 caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Behr's syndrome mimicking a case of hereditary spastic paraparesis.eNeurologicalSci · 2024Article
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- Nonstop mRNAs generate a ground state of mitochondrial gene expression noise.Science advances · 2022Article
- Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.Cerebellum (London, England) · 2022Article
- A stalled-ribosome rescue factor Pth3 is required for mitochondrial translation against antibiotics in Saccharomyces cerevisiae.Communications biology · 2021Article
- Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease.Frontiers in cell and developmental biology · 2021Review
- Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.Journal of neurology · 2020Article
- [Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- The Origin and Evolution of Release Factors: Implications for Translation Termination, Ribosome Rescue, and Quality Control Pathways.International journal of molecular sciences · 2019Review
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- Genetic heterogeneity of motor neuropathies.Neurology · 2017Article
- A neurodegenerative perspective on mitochondrial optic neuropathies.Acta neuropathologica · 2016Review
- Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.Genetics research · 2016Article
- Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Journal of neuromuscular diseases · 2015Article
- Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.Brain : a journal of neurology · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundBehr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.
objectiveHere we describe 4 patients with the classical Behr's syndrome phenotype from 3 unrelated families who carry homozygous nonsense mutations in the
methodsWhole exome sequencing was performed in genomic DNA and oxygen consumption was measured in patient cell lines.
resultsWe detected 2 different homozygous
conclusionsWe think that
Indexed as
Identifiers
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.