A longitudinal and cross‐sectional study of plasma neurofilament light chain concentration in Charcot‐Marie‐Tooth disease

Autor: Matilde Laura, Alexander M. Rossor, Robert W. Burgess, James N. Sleigh, Henny Wellington, Alexa Bacha, Reilly Mm, Mahima Kapoor, Shy Me, Amanda Heslegrave, Henrik Zetterberg, Xingyao Wu, Emily Spaulding

Publikováno v: Journal of the Peripheral Nervous System. 27:50-57

Aims Advances in genetic technology and small molecule drug development have paved the way for clinical trials in Charcot-Marie-Tooth disease (CMT), however, the current FDA-approved clinical trial outcome measures are insensitive to detect a meaning

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5700ead345c7e2931f40b8c8440db0c3
https://doi.org/10.1111/jns.12477

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity

Autor: Wallace, A, Pietrusz, A, Dewar, E, Dudziec, M, Jones, K, Hennis, P, Sterr, A, Baio, G, Machado, P, Laurá, M, Skorupinska, I, Skorupinska, M, Butcher, K, Trenell, M, Reilly, MM, Hanna, M, Ramdharry, GM

Objective: The aim of this phase 2 trial was to ascertain the feasibility and effect of community based aerobic exercise training for people with two of the more common neuromuscular diseases: Charcot-Marie-Tooth disease type 1A (CMT) and Inclusion B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e6683ed629c9d47210af85b01b33a6a2
https://eprints.kingston.ac.uk/id/eprint/43305/1/Dudziec-M-43305-VoR.pdf

Nerve conduction velocity in CMT1A: what else can we tell?

Autor: MANGANELLI, FIORE, PISCIOTTA, CHIARA, SANTORO, LUCIO, IODICE, ROSA, Reilly, Mm, Tozza, S, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Padua, L, Gemignani, F, Laurà, M, Hughes, Ra, Solari, A, Pareyson, D, Nolano, M, Grandis, M, Cabrini, I, Bertolasi, L, Mazzeo, A, Majorana, G, Vitetta, F, Scaioli, V, Ciano, C, Calabrese, D, Quattrone, A, Blake, J.

Publikováno v: Publons

Background and purpose Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0e0526989156c499bfbbf20f6b7969
http://hdl.handle.net/11570/3099767

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Autor: Liu, Y-T, Hersheson, J, Plagnol, V, Fawcett, K, Duberley, KEC, Preza, E, Hargreaves, IP, Chalasani, A, Laura, M, Wood, NW, Reilly, MM, Houlden, H

Publikováno v: Journal of Neurology, Neurosurgery, and Psychiatry

Background The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c1b6f9fbb4d46141a61e713d5e223a57
http://europepmc.org/articles/PMC3995328

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Autor: Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., NOLANO, MARIA, SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA

Publikováno v: Lancet Neurology
Lancet neurology
(2011).
info:cnr-pdr/source/autori:Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RA, Solari A/titolo:Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial./doi:/rivista:Lancet neurology (Print)/anno:2011/pagina_da:/pagina_a:/intervallo_pagine:/volume

Summary Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 ( PMP22 ), a model of Charcot–Marie–Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359d0331ff2e9bccc6826b6e749c0cdc
http://hdl.handle.net/11562/349112