Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

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

41. Early morphological abnormalities of myelinated fibers in a rat model of CMT1A

Autor: L. Nobbio, A. Schenone, D Visigalli, Fiore Manganelli, Vincenzo Provitera, Chiara Pisciotta, Maria Nolano, Giuseppe Caporaso, G. Capodivento, Annamaria Stancanelli, Lucia Santoro

Publikováno v: Clinical Neurophysiology. 127:e142

Abnormalities of internodal and nodal length associated with aspects of axonal degeneration have been described in skin samples of Charcot–Marie–Tooth type 1A (CMT1A) patients. It is not clear how early such abnormalities occur and if they change

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::691ca293e68646f8fe09731d0589b1b2
https://doi.org/10.1016/j.clinph.2015.09.049

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.