A mutation in the EGR2 gene that by itself does not cause disease was seen to result in Charcot–Marie–Tooth…
Articles by Patricia Inácio, PhD
Mutations in the Jagged1 (JAG1) gene may compromise the integrity of peripheral nerves — those found outside the brain…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However,…
Researchers have identified the first Portuguese family with Charcot-Marie-Tooth disease type 2E — caused by rare mutations in the…
Neuropathic pain — that due to damage in the nervous system — affects almost one-third of patients with Charcot-Marie-Tooth type…
Mutations in the GDAP1 gene — which are linked to Charcot-Marie-Tooth disease type 2K (CMT2K) — can affect how well mitochondria…
Passage Bio has acquired the rights for a gene therapy developed at the University of Pennsylvania (Penn) that…
Schwann cells — those responsible for the production of the myelin protective layer in peripheral nerve cells — fail to…
A mutation in the periaxin (PRX) gene has been reported for the first time as the…
Hearing aid trials are recommended for people with Charcot-Marie-Tooth disease (CMT), as hearing problems are variable in this patient…