Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: data from the national CMT registry.

Chiara PisciottaAlessandro BertiniIrene TramacereFiore ManganelliGian Maria FabriziAngelo SchenoneStefano TozzaTiziana CavallaroFederica TaioliMoreno FerrariniMarina GrandisEmilia BellonePaola MandichPrevitali Stefano CarloYuri FalzoneIsabella AllegriLuca PaduaCostanza PazzagliaAldo QuattronePaola ValentinoLuca GentileMassimo RussoDaniela CalabreseIsabella MoroniEmanuela PaglianoPaola SaveriStefania MagriSilvia BarattaFranco TaroniAnna MazzeoLucio SantoroGiuseppe VitaDavide Pareysonnull null

Published in: European journal of neurology (2023)

The Italian CMT Registry has proven to be a powerful data source to collect information about epidemiology and genetic distribution, clinical features and disease progression of CMT in Italy and is a useful tool for recruiting patients in forthcoming clinical trials.

Keyphrases

clinical trial
end stage renal disease
ejection fraction
electronic health record
big data
newly diagnosed
peritoneal dialysis
chronic kidney disease
genome wide
risk factors
health information
deep learning