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Category Archives: Articoli scientifici
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B) Neurological Research 2010 VOL 32 NO 1 Author: C. Angelini, L. Nardetto, C. Borsato, R. Padoan, M. Fanin, A. C. Nascimbeni and E. Tasca Objective: Autosomal recessive limb girdle muscular dystrophies (LGMD type 2) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A Lostal et al., Sci. Transl. Med. 11, eaat6072 (2019) 27 November 2019 Author: William Lostal, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg1, Heather Best1, John Edward Smith, Jochen Gohlke, Guillaume Corre, Xidan Li, Zaher Elbeck, Ralph Knöll, Jack-Yves Deschamps,
233Rd ENMC international workshop: clinical trial readiness for calpainopathies September 15 – 17, 2017 naarden, The Netherlands Author: William Lostal, J. Andoni Urtizberea, Isabelle Richard, calpain 3 study group Please cite this article as: William Lostal, J. Andoni Urtizberea, Isabelle Richard, calpain 3 study group, 233Rd ENMC international workshop: clinical trial readiness for calpainopathies, september
NATURAL HISTORY OF LGMD2A FOR DELINEATING OUTCOME MEASURES IN CLINICAL TRIALS Isabelle Richard, Jean Yves Hogrel , Daniel Stockholm et al Annals of Clinical and Translational Neurology 2016; 3 (4): 248-265 INTRODUZIONE La distrofia muscolare dei cingoli tipo LGMD2A (LGMD2A, OMIM) è una miopatia lentamente progressiva causata dal deficit di calpaina 3, una proteasi calcio
Lo studio, di cui il Prof. Yvan Torrente è Principal Investigator, è stato approvato dal Comitato Etico della Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico e si terrà presso lo stesso Ospedale Policlinico di Milano. Scopo della sperimentazione è quello di valutare l’efficacia del composto naturale su una coorte di 60 pazienti, tra cui 20
Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed
Volker Straub *, Marta Bertoli The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
