Marina Fanin
University of Padua
144 Papers
1K Citations
Marina Fanin is an academic researcher from University of Padua. The author has contributed to research in topics: Muscular dystrophy & Limb-girdle muscular dystrophy. The author has an hindex of 43, co-authored 144 publications.
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Papers
Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy
Paola Melacini,Marina Fanin,G. A. Danieli,Carla Villanova,F. Martinello,Marta Miorin,M. P. Freda,Manuela Miorelli,M. L. Mostacciuolo,Giuseppe Fasoli,Corrado Angelini,S. Dalla Volta +11 more
TL;DR: Cardiomyopathy is the main clinical feature and complication in patients affected by subclinical or mild BMD, and the cardiac manifestation is characterized by early right ventricular involvement and is later associated with left ventricular impairment.
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Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy.
Paola Melacini,Andrea Vianello,Carla Villanova,Marina Fanin,Marta Miorin,Corrado Angelini,S. Dalla Volta +6 more
TL;DR: In the management of advanced-stage DMD, a careful diagnosis of the heart-lung relationship should be performed, and both conventional treatment of heart failure and ventilatory therapy are necessary to improve the quality of life and survival in these patients.
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Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy
Elizabeth M. McNally,David Duggan,J. Rafael Gorospe,Carsten G. Bönnemann,Marina Fanin,Elena Pegoraro,Hart G.W. Lidov,Satoru Noguchi,Eijiro Ozawa,Richard S. Finkel,Robert P. Cruse,Corrado Angelini,Louis M. Kunkel,Eric P. Hoffman +13 more
TL;DR: Four patients with a severe muscular dystrophy phenotype were identified with homozygous, frameshifting mutations in gamma-sarcoglycan, and two of the four have microdeletions that disrupt the distal carboxyl-terminus of Gamma-sARCoglycan yet result in a complete absence of gamma-and beta-sparoglycan suggesting the importance of this region for stability of the sarcoglycan complex.
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Cardiac involvement in becker muscular dystrophy
Paola Melacini,Marina Fanin,Gian Antonio Danieli,Giuseppe Fasoli,Carla Villanova,Corrado Angelini,Libero Vitiello,Manuela Miorelli,G. Buja,Maria Luisa Mostacciuolo,Elena Pegoraro,Sergio Dalla Volta +11 more
TL;DR: The cardiac manifestation of Becker muscular dystrophy is characterized by early right ventricular involvement associated or not with left ventricular impairment, and exon 49 deletion is associated with cardiac disease.
141
Laminin α2 muscular dystrophy Genotype/phenotype studies of 22 patients
Elena Pegoraro,Harold G. Marks,Carlos A. Garcia,Thomas O. Crawford,Pedro Mancias,Anne M. Connolly,Marina Fanin,F. Martinello,Carlo P. Trevisan,C. Angelini,A. Stella,Mena Scavina,R. L. Munk,S. Servidei,C. C. Bönnemann,Tulio E. Bertorini,Gyula Acsadi,C. E. Thompson,D. Gagnon,G. Hoganson,Virginia H. Carver,R. A. Zimmerman,E P Hoffman +22 more
TL;DR: The data suggest that the large majority of laminin α2-deficient patients show laminIn α2 gene mutations, which are thought to interact with myofiber membrane receptor, such as integrins, and possibly dystrophin-associated glycoproteins.
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