ArticleBiomedicines2022
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
Article in Biomedicines, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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
12 citing papers in PubMed, 19 citations in OpenAlex.
- Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease.Journal of neurology · 2026Article
- Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.Annals of clinical and translational neurology · 2026Article
- INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.Annals of clinical and translational neurology · 2026Article
- Frameshift and Copy Number Variants inNeurology. Genetics · 2025Article
- Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.Journal of the peripheral nervous system : JPNS · 2025Article
- Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.European journal of neurology · 2025Observational
- SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.Journal of neurology · 2025Article
- 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
- Pseudodominance in RFC1-Spectrum Disorder.Cerebellum (London, England) · 2024Article
- Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.Journal of neurology · 2024Article
- The First Large Deletion ofBiomedicines · 2023Article
Corrections and comments
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Authors and funding
18 authors at 2 institutions in 1 country.
Funding
Abstract
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on 2695 IPN cases throughout Japan, in which
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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.