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Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Objective Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type…
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
Objective To determine whether microRNAs (miRs) are elevated in the plasma of individuals with the inherited peripheral neuropathy Charcot-Marie-Tooth disease type 1A (CMT1A), miR profiling…
The Charcot Joint: A Modern Neurologic Perspective
The Charcot joint, or Charcot neuroarthropathy, is a syndrome that was described over 140 years ago but one with very little exposure in the neurologic…
Narcolepsy among first‐ and second‐generation immigrants in Sweden: A study of the total population
Aims To study incident narcolepsy in first- and second-generation immigrant groups using Swedish-born individuals and native Swedes as referents. Methods The study population included all…
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
Objective To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on…
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