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UnknownTRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Not available
S-EPMC12054732 | biostudies-literature
UnknownA multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
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S-EPMC6581441 | biostudies-literature
UnknownGene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
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S-EPMC12632684 | biostudies-literature
UnknownBiallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
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S-EPMC8353599 | biostudies-literature
UnknownNatural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
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S-EPMC7805791 | biostudies-literature
UnknownGenetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Not available
S-EPMC10545504 | biostudies-literature
UnknownGenotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Not available
S-EPMC12493047 | biostudies-literature
UnknownRole of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Not available
S-EPMC11068103 | biostudies-literature
UnknownUse of Telemedicine for Postdischarge Assessment of the Surgical Wound: International Cohort Study, and Systematic Review With Meta-analysis.
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S-EPMC10174106 | biostudies-literature
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