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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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1a3d683ad1544ebec143af745d49985
https://pubmed.ncbi.nlm.nih.gov/24812204

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Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 42

Autor: B Bossi, G Ardolino, GM Fabrizi, L Bertolasi, T Cavallaro, S Polo, S Barbieri, N Rizzuto, A Priori

Publikováno v: Journal of the Peripheral Nervous System. 8:29-58

Connexin 32 (Cx32), a protein involved in gap-junction formation, in the peripheral nervous system is mainly localized in non-compact myelin of paranodes and Schmidt-Lanterman incisures. Despite patients with Cx32 mutations have a polyneuropathic phe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::603e4c158d6fc4edb305e2fdaaf5bd96
https://doi.org/10.1046/j.1529-8027.2003.00042.x