Category Archives: Ricerca e Pubblicazioni

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy

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Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

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A novel CAPN3 mutation in late-onset limb-girdle muscular distrophy with early respiratory insufficency

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The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

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

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Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

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,

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ENMC international workshop: clinical trial readiness for calpainopathies

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

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STORIA NATURALE DELLE LGMD2A PER DELINEARE LE MISURE DI RISULTAT NEI TRIAL CLINICI

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

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STUDIO MONOCENTRICO IN DOPPIO CIECO RANDOMIZZATO DELL’EFFETTO DI UNA MISCELA DI FLAVONOIDI ED ACIDI GRASSI NATURALI IN PAZIENTI AFFETTI DA DISTROFIA MUSCOLARE.

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

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Limb-girdle muscular dystrophy type 2A in Brazilian children

Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed

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Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

Volker Straub *, Marta Bertoli The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

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