Category Archives: Articoli scientifici

La distribuzione AAV-mediata di un propetide mutato della miostatina migliora il deficit di calpaina 3 ma non di alfa-sarcoglicano

Bartoli M,Poupiot J,Vulin A,Fougerousse F,Arandel L,Daniele N,Roudaut C,Noulet F,Garcia L,Danos O,Richard I. Gene Ther.2007 May;14(9):733-40. Epub 2007 Mar 1..

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Miosite eosinofila in deficit di calpaina 3: l’immunosoppressione della miosite eosinofila potrebbe alterare il corso naturale iniziale della malattia distrofica?

Oflazer PS, Gundesli H, Zorludemir S, Sabuncu T, Dincer P. Neuromuscul Disord. 2009 Apr;19(4):261-3.

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Ricerca traslazionale e prospettive terapeutiche nelle disferlinopatie

Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Mol Med.2011 Sep-Oct;17(9-10):875-82.

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Sicurezza ed efficacia del trasferimento genico AAV-mediato di Calpaina 3 in un modello murino di distrofia muscolare dei cingoli tipo 2A

Marc Bartoli, Carinne Roudaut, Samia Martin, Franc¸oise Fougerousse, Laurence Suel, Je´roˆme Poupiot, Evelyne Gicquel, Fanny Noulet, Olivier Danos, and Isabelle Richard Mol Ther. 2006 Feb;13(2):250-9. Epub 2005 Nov 14

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Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

Summary: Fourteen years ago, the first disease-causing mu- tation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened. The generation of mouse models helped to improve our understanding of the pathogenesis of the

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Eosinophilic myositis in calpainopathy: Could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease?

An 11-year-old girl with a calpain-3 gene (CAPN-3) mutation and eosinophilic myositis on muscle biopsy had high serum CK levels and eosinophil counts which showed spontaneous fluctuations. After com- mencement of immunosuppressive therapy reciprocal changes occured in response to alterations in doses of the medications. Subacutely evolving and spreading muscle weakness developed during tapering of

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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

The limb girdle muscular dystrophies (LGMD) are termed as such as they share the diagnosis, limb girdle characteristic feature of muscle weakness predominantly affecting the shoulder and muscular dystrophies, pelvic girdles; their classification has been completely revised in recent years because of management elucidation of many of the underlying genetic and protein alterations in the

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A Phase I/II trial of MYO-029 in Adult Subjects with Muscular Dystrophy

Objective: Myostatin is an endogenous negative regulator of muscle growth and a novel target for muscle diseases. We con- ducted a safety trial of a neutralizing antibody to myostatin, MYO-029, in adult muscular dystrophies (Becker muscular dys- trophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy). Methods: This double-blind, placebo-controlled, multinational, randomized study included 116 subjects divided

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Living with muscular dystrophy: Personal reflections

With the growing interest in day-to-day measures of value to patients, it may be of help to understand what goes through the minds of those who live with dystrophy every day. We don’t think about 6MWT or the density on an MRI. It is much more practical than that. It is falling, broken bones, struggling

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Limb–girdle muscular dystrophies

The increased understanding of the genes and pathogenic mechanism of the LGMDs will improve diagnostic processes and prognostic accuracy, and promote therapeutic strategies. European and global LGMD patient registries will increase current knowledge on natural history and facilitate translational research. Limb–girdle muscular dystrophies

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