Category Archives: Articoli scientifici

EVALUATION OF HEART INVOLVEMENT IN CALPAINOPATHY (LGMD2A) USING CARDIOVASCULAR MAGNETIC RESONANCE

SILVIO QUICK, MD, JOCHEN SCHAEFER, MD, NADINE WAESSNIG, MD, THORSTEN SCHULTHEISS, MD, ULRIKE REUNER, MD, STEFFEN SCHOEN, MD, HEINZ REICHMANN, MD, RUTH STRASSER, MD, PhD, and UWE SPEISER, MD

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Young adults’ experiences of living with recessive limb-girdle muscular dystrophy from a salutogenic orientation: an interview study

Anna Carin Aho, Sally Hultsjo, and Katarina Hjelm Department of Health and Caring Sciences, Linnaeus University, Va ̈xjo ̈, Sweden, Psychiatric Clinic, County Hospital, Ryhov, Jo ̈nko ̈ping, Sweden, and Department of Social and Welfare Studies, Campus Norrko ̈ping, Linko ̈ping University, Linko ̈ping, Sweden

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The Limb-Girdle Muscular Dystrophies

Matthew P. Wicklund, MDa,*, John T. Kissel, MDb

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“Ho ottenuto qualcosa di positivo da questa situazione”: benefici psicologici nei familiari che si occupano di giovani persone con distrofia muscolare.

 

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Farmaci donatori di ossido nitrico ed anti-infiammatori non steroidei come terapia per le distrofie muscolari: evidenze da uno studio di sicurezza con misure di efficacia esplorative in pazienti distrofici adulti.

D’Angelo MG, Gandossini S, Martinelli Boneschi F, Sciorati C, Bonato S, Brighina E, Comi GP, Turconi AC, Magri F, Stefanoni G, Brunelli S, Bresolin N, Cattaneo D, Clementi E. Pharmacol Res 2012 Apr;65(4):472-9.

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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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