ArticleJournal of neurology, neurosurgery, and psychiatry2019
Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
Article in Journal of neurology, neurosurgery, and psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
59 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Plantar Pressure Distribution in Charcot-Marie-Tooth Disease: A Systematic Review.Sensors (Basel, Switzerland) · 2025Pooled it
- Late-onset CMT neuropathy in the NGS era: a 10-year retrospective study.Journal of neurology · 2026Article
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.Human molecular genetics · 2026Article
- Pathogenic Mechanisms of Two Novel Variants in the GJB1 Gene.Human mutation · 2026Article
- NovelFrontiers in medicine · 2026Article
- Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.Iranian journal of public health · 2025Review
- Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.Journal of the peripheral nervous system : JPNS · 2025Article
- High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in theMolecular syndromology · 2025Article
- A cross-sectional survey on the health status of patients with Charcot-Marie-Tooth disease in a Chinese national patient group.Journal of neurology · 2025Article
- Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.Arquivos de neuro-psiquiatria · 2025Article
- Article
- Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy.Clinical neurophysiology practice · 2025Article
- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.Archives of Iranian medicine · 2024Article
- Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.Journal of the peripheral nervous system : JPNS · 2024Article
- Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT).
methodsFrom May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas
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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.