Disease: Charcot-Marie-Tooth disease- neuronal- type A
- A Novel Heterozygous <em>De Novo MORC2</em> Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
- An Adapted GeneSwitch Toolkit for Comparable Cellular and Animal Models: A Proof of Concept in Modeling Charcot-Marie-Tooth Neuropathy
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice
- Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy
- Clinical phenotypic diversity of <em>NOTCH2NLC</em>-related disease in the largest case series of inherited peripheral neuropathy in Japan
- Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1
- Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A
- Computational study of the motor neuron protein KIF5A to identify nsSNPs, bioactive compounds, and its key regulators
- Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease
- Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules
- Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures
- Dynein Dysfunction Prevents Maintenance of High Concentrations of Slow Axonal Transport Cargos at the Axon Terminal: A Computational Study
- Exploring the relationship between <em>IGHMBP2</em> gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review
- Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review
- Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease
- HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
- In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders
- Insights into phenotypic variability caused by GARS1 pathogenic variants
- MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model
- Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons
- Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
- Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits
- Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease
- Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases
- Peripheral Neuropathy and Decreased Locomotion of a <em>RAB40B</em> Mutation in Human and Model Animals
- Preclinical Efficacy of Peripheral Nerve Regeneration by Schwann Cell-like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells in C22 Mice
- Preclinical translational platform of neuroinflammatory disease biology relevant to neurodegenerative disease
- Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study
- SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
- SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
- Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
- Testing SIPA1L2 as a modifier of CMT1A using mouse models
- The <em>MORC2</em> p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways
- The roles of HSP40/DNAJ protein family in neurodegenerative diseases
- Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X
- Upside-Down Preference in the Forskolin-Induced In Vitro Differentiation of 50B11 Sensory Neurons: A Morphological Investigation by Label-Free Non-Linear Microscopy