PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Autor: L. Nobbio, D. Visigalli, D. Radice, E. Fiorina, A. Solari, G. Lauria, M. M. Reilly, A. Schenone, D. Pareyson, C. Marchesi, E. Salsano, L. Nanetti, C. Marelli, V. Scaioli, C. Ciano, M. Rimoldi, E. Rizzetto, F. Camozzi, E. Narciso, M. Grandis, M. Monti Bragadin, G. M. Fabrizi, T. Cavallaro, A. Casano, L. Bertolasi, I. Cabrini, K. Corra, N. Rizzuto, L. Santoro, M. Nolano, G. Vita, A. Mazzeo, M. Aguennouz, R. Di Leo, G. Majorana, N. Lanzano, F. Valenti, A. Quattrone, P. Valentino, R. Nistico, D. Pirritano, A. Lucisano, M. Canino, L. Padua, C. Pazzaglia, G. Granata, M. Foschini, F. Gemignani, F. Brindani, F. Vitetta, I. Allegri, F. Visioli, P. Bogani, NOLANO, MARIA, SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA

Publikováno v: Brain
137 (2014): 1614–1620. doi:10.1093/brain/awu071
info:cnr-pdr/source/autori:Nobbio, Lucilla Alessandra; Visigalli, Davide; Radice, Davide; Fiorina, Elisabetta; Solari, Alessandra; Lauria, Giuseppe; Reilly, Mary M.; Santoro, Lucio; Schenone, Angelo E.; Pareyson, Davide, CMT-TRIAAL Group./titolo:PMP22 messenger RNA levels in skin biopsies: Testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker/doi:10.1093%2Fbrain%2Fawu071/rivista:Brain (Print)/anno:2014/pagina_da:1614/pagina_a:1620/intervallo_pagine:1614–1620/volume:137

Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with increased gene dosage for PMP22 . Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can be used as a biological marker of di

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https://pubmed.ncbi.nlm.nih.gov/24812204

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3dda55d8dc9ec7b60db6b83044440845
https://pubmed.ncbi.nlm.nih.gov/14884924

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::82c8433d5ec35e0f5a217c2eebb5d5ec
https://pubmed.ncbi.nlm.nih.gov/13967132