A rare mutation in the myelin protein zero (MPZ)Â gene leads to higher-than-normal levels of the MPZ protein and is associated…
Articles by Marta Figueiredo, PhD
The investigational gene therapy Engensis (VM202) was generally safe and showed signs of effectiveness at easing sensory neuropathy, or…
People with Charcot-Marie-Tooth disease type 1A (CMT1A) show a poorer performance in cardiopulmonary exercise testing using a stationary bicycle relative…
The Charcot-Marie-Tooth Association (CMTA) will hold its 20th annual Patient/Family Conference — designed to empower and connect the Charcot-Marie-Tooth…
Mutations in a particular region of the neurofilament heavy chain or NEFHÂ gene cause an atypical, more severe form of…
A newly identified mutation in the ATP1A1 gene associated with an intermediate form of Charcot-Marie-Tooth disease (CMT) was found…
Two approved compounds, the antibiotic florfenicol or the MitoQ antioxidant supplement, prevented symptom development in a mouse model of…
Abnormalities in cellular transport and in mitochondria (the cell’s powerhouses) are a common feature of motor neurons derived from people…
NMD Pharma, in collaboration with Aarhus University in Denmark and The Ohio State University, initiated an observational study to…
Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2Â subtype F (CMT2F), according to…