Heterozygous OPA1 mutations in Behr 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

21 citing papers in PubMed.

1. Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.Orphanet journal of rare diseases · 2025
   Article
2. Behr's syndrome mimicking a case of hereditary spastic paraparesis.eNeurologicalSci · 2024
   Article
3. Biallelic Optic Atrophy 1 (Genes · 2022
   Review
4. Mitochondrial quality control: from molecule to organelle.Cellular and molecular life sciences : CMLS · 2021
   Review
5. Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.Biology · 2021
   Review
6. Therapeutic Options in Hereditary Optic Neuropathies.Drugs · 2021
   Review
7. Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.Journal of neurology · 2020
   Article
8. Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.BMC pediatrics · 2020
   Article
9. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.Neurology. Genetics · 2019
   Article
10. Structural and evolutionary characteristics of dynamin-related GTPase OPA1.PeerJ · 2019
    Article
11. A neurodegenerative perspective on mitochondrial optic neuropathies.Acta neuropathologica · 2016
    Review
12. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Molecular medicine reports · 2016
    Review
13. Disturbed mitochondrial dynamics and neurodegenerative disorders.Nature reviews. Neurology · 2015
    Review
14. 'Behr syndrome' with OPA1 compound heterozygote mutations.Brain : a journal of neurology · 2015
    Article
15. Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.Brain : a journal of neurology · 2014
    Article
16. Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in theJournal of neuromuscular diseases · 2014
    Article
17. Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.Molecular neurodegeneration · 2013
    Review
18. The optic nerve: a "mito-window" on mitochondrial neurodegeneration.Molecular and cellular neurosciences · 2013
    Review
19. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Brain : a journal of neurology · 2012
    Article
20. Dominant optic atrophy.Orphanet journal of rare diseases · 2012
    Review

Corrections and comments

• Commented on by
  Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.2011
• Commented on by
  Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.2014
• Comment on
  Multi-system neurological disease is common in patients with OPA1 mutations.2010

Authors and funding

10 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

Indexed as