Disease: Charcot-Marie-Tooth disease- Type 2D
- A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease
- AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in <em>Gars<sup>P278KY/+</sup></em> mice
- Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
- Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
- Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels
- Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice
- Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
- CMT2D neuropathy is influenced by vitamin D-mediated environmental pathway
- Conformational sampling of CMT-2D associated GlyRS mutations
- Developmental demands contribute to early neuromuscular degeneration in CMT2D mice
- Gene Repair of iPSC Line with GARS (G294R) Mutation of CMT2D Disease by CRISPR/Cas9
- HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D)
- Human Tridimensional Neuronal Cultures for Phenotypic Drug Screening in Inherited Peripheral Neuropathies
- Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
- Insights into phenotypic variability caused by GARS1 pathogenic variants
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
- Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
- Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a <em>Drosophila</em> Model of Peripheral Neuropathy
- SIRT2-knockdown rescues GARS-induced Charcot-Marie-Tooth neuropathy
- tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase
- X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report