ReviewNeuromolecular medicine2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Review in Neuromolecular medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed, 60 citations in OpenAlex.
- A Case of Advanced Charcot-Marie-Tooth Disease Showing Extreme Lumbosacral Nerve Root Hypertrophy.Cureus · 2026Article
- Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.Journal, genetic engineering & biotechnology · 2023Article
- Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.Current biology : CB · 2021Article
- Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.Annals of clinical and translational neurology · 2019Article
- Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicingPeerJ · 2019Article
- Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.Audiology & neuro-otology · 2018Article
- A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.PLoS genetics · 2016Article
- Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.Journal of neurology · 2015Article
- Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.Scientific reports · 2014Article
- AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2014Article
- A coregulatory network of NR2F1 and microRNA-140.PloS one · 2013Article
- The palmitoylation state of PMP22 modulates epithelial cell morphology and migration.ASN neuro · 2012Article
- Charcot-Marie-Tooth disease and intracellular traffic.Progress in neurobiology · 2012Review
- Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2012Article
- High levels of Hsp90 cochaperone p23 promote tumor progression and poor prognosis in breast cancer by increasing lymph node metastases and drug resistance.Cancer research · 2010Article
- The EGR family gene egrh-1 functions non-autonomously in the control of oocyte meiotic maturation and ovulation in C. elegans.Development (Cambridge, England) · 2010Article
- Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.Neurogenetics · 2010Article
- The membrane proteome of the mouse lens fiber cell.Molecular vision · 2009Article
- Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of disorders and is the most common inherited neuromuscular disorder, with an estimated overall prevalence of 17-40/10,000. Although there has been major advances in the understanding of the genetic basis of CMT in recent years, the most useful classification is still a neurophysiological classification that divides CMT into type 1 (demyelinating; median motor conduction velocity < 38 m/s) and type 2 (axonal; median motor conduction velocity > 38 m/s). An intermediate type is also increasingly being described. Inheritance can be autosomal-dominant (AD), X-linked, or autosomal-recessive (AR). AD CMT1 is the most common type of CMT and was the first form of CMT in which a causative gene was described. This review provides an up-to-date overview of AD CMT1 concentrating on the molecular genetics as the clinical, neurophysiological, and pathological features have been covered elsewhere. Four genes (PMP22, MPZ, LITAF, and EGR2) have been described in the last 15 yr associated with AD CMTI and a further gene (NEFL), originally described as causing AD CMT2 can also cause AD CMT1 (by neurophysiological criteria). Studies have shown many of these genes, when mutated, can cause a wide range of CMT phenotypes from the relatively mild CMT1 to the more severe Dejerine-Sottas disease and congenital hypomyelinating neuropathy, and even in some cases axonal CMT2. This review discusses what is known about these genes and in particular how they cause a peripheral neuropathy, when mutated.
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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.