DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening - Saveri, Paola; Magri, Stefania; Maderna, Emanuela; Balistreri, Francesca; Lombardi, Raffaella; Ciano, Claudia; Moda, Fabio; Garavaglia, Barbara; Reale, Chiara; Lauria Pinter, Giuseppe; Taroni, Franco; Pareyson, Davide; et al. (European journal of neurology, 2022)
Keywords: Accumulation; alpha-Synuclein; Basal ganglia; Biopsy; Central nervous system diseases; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; DNA-Binding Proteins - genetics; Gene expression; genetic and inherited disorders; Hearing; Hearing loss; Homozygote; HSP40 Heat-Shock Proteins - genetics; Humans; Molecular Chaperones - genetics; Movement disorders; mRNA; Muscles; Mutation; Mutation - genetics; Nerve conduction; Neurodegenerative diseases; Neurogenetics; neuropathology; Neuropathy; Original; Parkinson's disease; Patients; peripheral neuropathies; Phenotype; Polyneuropathy; Protein interaction; Proteins; RNA, Messenger; Sensation; Skin; Synuclein; Thigh; Tooth diseases; genetic and inherited disorders; Parkinson's disease; peripheral neuropathies; neuropathology