ArticleEuropean journal of human genetics : EJHG2009
Charcot-Marie-Tooth disease.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
98 citing papers in PubMed, 1 synthesis or guideline pooled it, 196 citations in OpenAlex.
- Dietary Supplementation for Para-Athletes: A Systematic Review.Nutrients · 2021Pooled it
- When the Cytoskeleton Fails: Primary Structural Defects Underlying Disorders with Neurological Involvement.International journal of molecular sciences · 2026Review
- C2-C3 anterolisthesis with myelopathy in a toddler with Charcot-Marie-Tooth disease: a rare case and review of syndromic pediatric C2-C3 instability.International journal of surgery case reports · 2026Article
- Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant inGlobal medical genetics · 2026Article
- Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.NPJ genomic medicine · 2026Article
- Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.Amino acids · 2026Review
- Genetic basis of Charcot-Marie-Tooth disease in Pakistani consanguineous families.Frontiers in neurology · 2026Article
- Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease.NAR molecular medicine · 2026Article
- NovelNeurology. Genetics · 2025Article
- Septins in the nervous system: from cytoskeletal dynamics to neurological disorders.Cell communication and signaling : CCS · 2025Review
- Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.Cureus · 2025Article
- Review
- Transfer RNA and small molecule therapeutics for aminoacyl-tRNA synthetase diseases.The FEBS journal · 2025Review
- Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.IUBMB life · 2025Review
- Epigenetic regulation of the humanBiochemistry and biophysics reports · 2024Article
- Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.IUBMB life · 2024Article
- Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria.Annals of medicine and surgery (2012) · 2024Article
- Demyelination and NaeNeuro · 2024Article
- Article
- Adaptive Judo and neuropathy: a mini review on motor skills, balance, and quality of life improvement.Frontiers in psychology · 2024Review
38 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
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity. Population based studies have determined the contributions of the various genes to disease burden enabling evidence-based approaches to genetic testing.
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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.