Associated Papers
Circulating mitochondrial components and metabolic and inflammatory markers in Charcot-Marie-Tooth type 2B.
Girolimetti G et al.
Neurobiology of Disease, 2025
Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot-Marie-Tooth 2B Disease.
Mulligan RJ et al.
Biomolecules, 2023
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy.
Gu Y et al.
Communications Biology, 2022
Membrane Targeting and GTPase Activity of Rab7 Are Required for Its Ubiquitination by RNF167.
Ghilarducci K et al.
International Journal of Molecular Sciences, 2022
Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation.
Romano R et al.
Cells, 2022
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
26392352 (PubMed )
Supplement: 12881_2015_224_MOESM2_ESM.xlsx › ST2
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