Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.
Researchers have identified the first Portuguese family with Charcot-Marie-Tooth disease type 2E — caused by rare mutations in the NEFL gene — with family members showing different symptoms. The case ... Read more
Mutations in the GDAP1 gene — which are linked to Charcot-Marie-Tooth disease type 2K (CMT2K) — can affect how well mitochondria are able to keep cells supplied with essential energy, a lab ... Read more
Hearing aid trials are recommended for people with Charcot-Marie-Tooth disease (CMT), as hearing problems are variable in this patient population, a study reports. Patients showed particular difficulty in hearing ... Read more
Children with Charcot-Marie-Tooth disease have reduced physical activity and ambulation, factors linked with greater disability, a study suggests. The study, “Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional ... Read more
Two new mutations in the LRSAM1 gene linked to Charcot-Marie-Tooth (CMT) disease type 2P were found in eight non-related French families, according to researchers. Their findings were published in the ... Read more
Further studies are needed to understand how mutations in genes coding for aminoacyl-tRNA synthetases (aaRSs) may help fuel Charcot-Marie-Tooth (CMT) disease, researchers say. Their study, “Neurodegenerative Charcot-Marie-Tooth disease as a ... Read more
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