ReviewJournal of biomedicine & biotechnology2009
Diagnosis of Charcot-Marie-Tooth disease.
Review in Journal of biomedicine & biotechnology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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.
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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
37 citing papers in PubMed, 86 citations in OpenAlex.
- Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.Neurology · 2026Article
- The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity.Journal of neurochemistry · 2026Review
- Unpacking Social Disadvantage Metrics in Neuromuscular Conditions: Area Deprivation Index Versus Child Opportunity Index.Journal of the Pediatric Orthopaedic Society of North America · 2025Article
- Estradiol rescues male hydroxyl radical-mediated Charcot-Marie-Tooth 2Z by Morc2a stabilization through autophagy inhibition in a murine model.Acta neuropathologica · 2025Article
- High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in theMolecular syndromology · 2025Article
- Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis.Respiratory medicine case reports · 2025Article
- Article
- Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.Genes · 2024Review
- Novel Variants inGenes · 2023Article
- Playing Disability Rugby League with Charcot-Marie-Tooth Disease: A Case Study.Sports (Basel, Switzerland) · 2023Article
- Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.Case reports in medicine · 2022Article
- A Rare Phenotype of Uncommon Charcot-Marie-Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography.Frontiers in genetics · 2022Article
- Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies.Brain sciences · 2021Article
- Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.Journal of neurology · 2019Article
- Article
- Monitoring Heart Rate Variability Before and After a Marathon in an Elite Wheelchair Athlete: A Case Study.Journal of sports science & medicine · 2018Article
- WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.Neurogenetics · 2018Article
- The role of tRNA synthetases in neurological and neuromuscular disorders.FEBS letters · 2018Review
- X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.Medicine · 2017Article
- Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.International journal of molecular sciences · 2017Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.
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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.