ArticleNeurology. Genetics2025
Novel
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Our aim was to report a novel variant of Guanine nucleotide-binding protein subunit beta-4 gene ( Methods: We performed detailed neurologic and electrophysiologic assessments and segregation analysis in a patient form single family with Charcot-Marie-Tooth (CMT) disease with novel Results: We identified a novel Discussion: We reinterpreted the 8 previously reported GNB4 gene variants in the literature from 10 unrelated families in addition to the novel variant reported in this study in patients with hereditary neuropathy. We show that GNB4-associated neuropathy is associated with mixed axonal and demyelinating features presenting with usually symmetric lower limb motor weakness and sensory loss and/or upper limb weakness and sensory loss.
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.