ReviewJournal of genetic counseling2013
A review of genetic counseling for Charcot Marie Tooth disease (CMT).
Review in Journal of genetic counseling, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 29 citations in OpenAlex.
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Novel mutation in theThe Journal of international medical research · 2022Article
- Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous MarriagesBalkan medical journal · 2022Article
- Exome sequencing reveals a novelExperimental and therapeutic medicine · 2018Article
- Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.Journal of multidisciplinary healthcare · 2016Review
- Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Molecular genetics & genomic medicine · 2015Article
- Intermediate Charcot-Marie-Tooth disease.Neuroscience bulletin · 2014Review
- The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.Molecular genetics & genomic medicine · 2014Article
- A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L.Neural regeneration research · 2014Article
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Current molecular medicine · 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
7 authors at 7 institutions in 2 countries.
Funding
Abstract
Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically identifiable causes of CMT (PMP22, GJB1, MPZ, MFN2), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. This is the most inclusive publication for CMT-specific genetic counseling.
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.