- Validation of the Parent-Proxy Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure Feb 6, 2023 - The parent-proxy version of the pCMT-QOL outcome measure is a reliable, valid, and sensitive proxy measure of health-related QOL for children aged 8-18 with CMT.
- The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease Feb 4, 2023 - Our results further confirm the causative role of ATP1A1 in peripheral neuropathy and broaden the mutational and phenotypic spectrum of ATP1A1-associated CMT.
- Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules Feb 3, 2023 - berrant interaction rescues SG abnormalities and alleviates motor deficits in CMT2D mice. These findings reveal a stress-dependent molecular link across diverse CMT2 mutants and provide a conceptual framework for understanding genetic heterogeneity in light of environmental stress.
- Retraction: Charcot-Marie-Tooth Disease as a Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing Jan 20, 2023 - This article has been retracted.
- INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis Jan 13, 2023 - This article is protected by copyright. All rights reserved.
- Exercise induced myelin protein zero improvement in neuropathic pain rats Jan 11, 2023 - Swimming exercise improves myelin protein zero level in neuropathic rats along with attenuating neuropathic pain.
- A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies Jan 11, 2023 - CMT&RIPNs are probably prevalent in older ages, males, and Northern Europe.
- X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report Jan 11, 2023 - SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.
- Electroceutical approach ameliorates intracellular PMP22 aggregation and promotes pro-myelinating pathways in a CMT1A in vitro model Dec 30, 2022 - This study demonstrates its effectiveness towards ameliorating biomolecular abnormalities in an in vitro model of CMT1A, an inherited peripheral neuropathy. These findings will facilitate the clinical translation of an electroceutical treatment for CMT1A.
- How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease Dec 26, 2022 - The T118M mutation with the occurrence of long and/or repeated episodes of carpal tunnel syndrome.
- CMT1A current gene therapy approaches and promising biomarkers Dec 22, 2022 - Tinnitus might negatively affect emotional wellbeing and cognitive capacities in older people.
