ArticleNeurology. Genetics2020
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Evolutionarily conserved short linear motifs drive actin filament binding.Nature cell biology · 2026Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Sensory-motor circuit is a therapeutic target forScience advances · 2024Article
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Attenuated cerebellar phenotypes in Inpp4a truncation mutants with preserved phosphatase activity.Disease models & mechanisms · 2023Article
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Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination.
methodsWhole-exome sequencing of genomic DNA and analysis for recessively inherited mutations; PCR-based messenger RNA/complementary DNA analysis of transcripts to characterize the effects of variants identified by exome sequencing.
resultsWe identified compound heterozygous mutations in dystonin (
conclusionsThese findings introduce a novel human phenotype, axonal Charcot-Marie-Tooth, of recessive
Identifiers
What OpenQuestion holds
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.