ReviewNeuromolecular medicine2006
Autosomal-recessive forms of 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 31 papers.
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Who cites it
31 citing papers in PubMed.
- TheInternational journal of molecular sciences · 2025Review
- Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.BMC neurology · 2024Article
- Identification and Characterization of Novel Founder Mutations inInternational journal of molecular sciences · 2024Article
- Expanding the Molecular Spectrum ofArchives of Iranian medicine · 2023Article
- AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements inBrain communications · 2021Article
- Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Observational
- Article
- Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.BMC medical genetics · 2015Article
- Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Neurogenetics · 2015Article
- Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Journal of applied genetics · 2013Article
- Inherited neuropathies: clinical overview and update.Muscle & nerve · 2013Review
- Charcot-Marie-Tooth disease and intracellular traffic.Progress in neurobiology · 2012Review
- Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Molecular syndromology · 2012Article
- SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.Journal of neurology · 2012Article
- Advances in the laboratory evaluation of peripheral neuropathies.Current neurology and neuroscience reports · 2012Review
- A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Orphanet journal of rare diseases · 2011Article
- Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- Strategy for genetic testing in Charcot-Marie-disease.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2011Article
- Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. Until now, demyelinating ARCMT was more extensively studied at the genetic level than the axonal form. Since 1999, the number of localized or identified genes responsible for demyelinating ARCMT has greatly increased. Eight genes, EGR2, GDAP1, KIAA1985, MTMR2, MTMR13, NDRG1, PRX, and CTDP1, have been identified and two new loci mapped to chromosomes 10q23 and 12p11-q13. In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis.
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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.