With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.
Stroke-like symptoms and mild cognitive impairment are among non-specific symptoms that may suggest X-linked Charcot-Marie-Tooth type 1 (CMTX1), a case series shows. The series, “GJB1 Mutation-A Disease Spectrum: Report of ... Read more
Foot drop in Charcot-Marie-Tooth disease may be corrected by transferring the end part of specific leg muscles to the midfoot region, researchers report. The study, titled “Extensor Tendon Transfers ... Read more
Researchers have successfully used adeno-associated virus-mediated gene therapy to treat mice that replicated a novel mutation found in a Charcot-Marie-Tooth Type 2D patient with severe disease. The study describing ... Read more
A research project that is now underway and recruiting participants is intended to identify new disease-causing genetic mutations in Charcot-Marie-Tooth (CMT) disease patients. The goal of the observational trial (NCT01193088), ... Read more
Nationwide Children’s Hospital (NCH) has granted the exclusive rights of neutotrophin 3 (NT-3), its gene therapy candidate for the treatment of Charcot-Marie-Tooth (CMT) neuropathies, to Sarepta Therapeutics. Researchers plan ... Read more