Disease: Charcot-Marie-Tooth disease- neuronal- type B
- Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B
- Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families
- Bicyclic-Capped Histone Deacetylase 6 Inhibitors with Improved Activity in a Model of Axonal Charcot-Marie-Tooth Disease
- Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice
- Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination
- Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
- Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
- Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016
- Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila
- Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
- Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lack of evidence for a pathogenic role of T-lymphocytes in an animal model for Charcot-Marie-Tooth disease 1A
- Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B
- MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
- Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy
- MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
- Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A
- Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
- Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies
- Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a <em>Drosophila</em> Model of Peripheral Neuropathy
- PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
- Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain
- Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B
- Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E
- Role of immune cells in animal models for inherited neuropathies: facts and visions
- Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A
- Testing SIPA1L2 as a modifier of CMT1A using mouse models
- The importance of quantitative electron microscopy in studying hypertrophic neuropathies. A comparison between a case of Dejerine Sottas disease (HMSN III) and a case of the hypertrophic form of Charcot-Marie-Tooth disease (HMSN I)
- tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase
- Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
- Zebrafish as a Model to Investigate Dynamin 2-Related Diseases