ReviewNeuromolecular medicine2006
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
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 36 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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Perineural delivery of AAV2/9 in non-human primates is a safe and efficient route for gene therapy in Charcot-Marie-Tooth diseases.Molecular therapy. Methods & clinical development · 2025Article
- Current Treatment Methods for Charcot-Marie-Tooth Diseases.Biomolecules · 2024Review
- Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.Brain pathology (Zurich, Switzerland) · 2024Article
- Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.Life (Basel, Switzerland) · 2022Article
- A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.Surgical neurology international · 2022Article
- Neurological involvement in monogenic podocytopathies.Pediatric nephrology (Berlin, Germany) · 2021Review
- Article
- Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.Muscle & nerve · 2017Article
- Genetic and clinical characteristics ofJournal of neurology, neurosurgery, and psychiatry · 2017Article
- PI5P and PI(3,5)PCell structure and function · 2017Review
- Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.International journal of molecular sciences · 2017Article
- Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.BioEssays : news and reviews in molecular, cellular and developmental biology · 2016Review
- De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.Journal of neurology · 2016Article
- NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.Journal of neurology · 2016Article
- Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.Journal of multidisciplinary healthcare · 2016Review
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell reports · 2015Article
- NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.Journal of neurology · 2015Article
- PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Orphanet journal of rare diseases · 2014Review
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to Schwann cell and axonal pathology. An intermediate group also exists with nerve conduction velocities, which overlaps the two main groups. Families with intermediate CMT can be recognized in which different affected individuals in the same family have motor conduction velocities in both the CMT type 1 and 2 ranges (i.e., above and below 38 m/s). The intermediate group is caused by a limited number of distinct gene mutations in dynamin2 (DNM2), gap-junction protein 1 (GJB1), neurofilament light polypeptide (NF-L) genes, and a rare mutation and as yet unknown genes on chromosome 1 and 10 loci. Intermediate forms of CMT may be associated with unique disease mechanisms affecting both Schwann cells and axons. It is useful to recognize this unique group of neuropathies for diagnostic and management purposes.
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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.