Hakutulokset - Luciano Merlini

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  1. 1
    A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy

    A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy Tekijä Alessandra Ferlini, Nazzareno Galiè, Luciano Merlini, Caroline A. Sewry, Angelo Branzi, Francesco Muntoni

    Julkaistu 1998
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    Artigo
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  2. 2
    Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy

    Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy Tekijä Marco Schiavone, Alessandra Zulian, Sara Menazza, Valeria Petronilli, Francesco Argenton, Luciano Merlini, Patrizia Sabatelli, Paolo Bernardi

    Julkaistu 2017
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    Artigo
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  3. 3
    Collagen VI in the Musculoskeletal System

    Collagen VI in the Musculoskeletal System Tekijä Alberto Di Martino, Matilde Cescon, Claudio D’Agostino, Francesco Schilardi, Patrizia Sabatelli, Luciano Merlini, Cesare Faldini

    Julkaistu 2023
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    Revisão
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  4. 4
    NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

    NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery Tekijä James R. Groome, Frank Lehmann‐Horn, Chunxiang Fan, Markus Wolf, Vern Winston, Luciano Merlini, Karin Jurkat‐Rott

    Julkaistu 2014
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    Artigo
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  5. 5
    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy Tekijä Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloğlu, Bernard Échenne, Luciano Merlini, Pascale Guicheney

    Julkaistu 2002
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    Artigo
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  6. 6
    Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

    Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies Tekijä Elisa Sorato, Sara Menazza, Alessandra Zulian, Patrizia Sabatelli, Francesca Gualandi, Luciano Merlini, Paolo Bonaldo, Marcella Canton, Paolo Bernardi, Fabio Di Lisa

    Julkaistu 2014
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    Artigo
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  7. 7
    Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

    Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies Tekijä Luciano Merlini, Alessia Angelin, Tania Tiepolo, Paola Braghetta, Patrizia Sabatelli, Alessandra Zamparelli, Alessandra Ferlini, Nadir M. Maraldi, Paolo Bonaldo, Paolo Bernardi

    Julkaistu 2008
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    Artigo
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  8. 8
    Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle

    Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle Tekijä Elisabetta Mattioli, Marta Columbaro, Cristina Capanni, NM Maraldi, Vittoria Cenni, Katia Scotlandi, Maria Teresa Marino, Luciano Merlini, Stefano Squarzoni, Giovanna Lattanzi

    Julkaistu 2011
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    Artigo
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  9. 9
    Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy

    Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy Tekijä Giuseppe Boriani, M Gallina, Luciano Merlini, Gisèle Bonne, Daniela Toniolo, Silvia Amati, Mauro Biffi, Cristian Martignani, L Frabetti, Marco Bonvicini, Claudio Rapezzi, Angelo Branzi

    Julkaistu 2003
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    Artigo
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  10. 10
    Collagen VI–NG2 axis in human tendon fibroblasts under conditions mimicking injury response

    Collagen VI–NG2 axis in human tendon fibroblasts under conditions mimicking injury response Tekijä Francesca Sardone, Spartaco Santi, Francesca Tagliavini, Francesco Traina, Luciano Merlini, Stefano Squarzoni, Matilde Cescon, Raimund Wagener, Nadir Mario Maraldi, Paolo Bonaldo, Cesare Faldini, Patrizia Sabatelli

    Julkaistu 2016
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    Artigo
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  11. 11
    The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in <i>Col6a1</i><sup>−/−</sup> myopathic mice

    The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in <i>Col6a1</i><sup>−/−</sup> myopathic mice Tekijä Tania Tiepolo, Alessia Angelin, Elena Palma, Patrizia Sabatelli, Luciano Merlini, Luca Nicolosi, Francesca Finetti, Paola Braghetta, G. Vuagniaux, J Dumont, C.T. Baldari, Paolo Bonaldo, Paolo Bernardi

    Julkaistu 2009
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    Artigo
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  12. 12
    Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

    Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins Tekijä Alessia Angelin, Tania Tiepolo, Patrizia Sabatelli, Paolo Grumati, Natascha Bergamin, Cristina Golfieri, Elisabetta Mattioli, Francesca Gualandi, Alessandra Ferlini, Luciano Merlini, Nadir M. Maraldi, Paolo Bonaldo, Paolo Bernardi

    Julkaistu 2007
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  13. 13
    Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies

    Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies Tekijä Patrizia Sabatelli, Sudheer Kumar Gara, Paolo Grumati, Anna Urciuolo, Francesca Gualandi, Rosa Curci, Stefano Squarzoni, Alessandra Zamparelli, E. Martoni, Luciano Merlini, Mats Paulsson, Paolo Bonaldo, Raimund Wagener

    Julkaistu 2010
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    Artigo
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  14. 14
    NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models

    NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models Tekijä Alessandra Zulian, Enzo Rizzo, Marco Schiavone, Elena Palma, Francesca Tagliavini, Bert Blaauw, Luciano Merlini, N.M. Maraldi, Patrizia Sabatelli, Paola Braghetta, Paolo Bonaldo, Francesco Argenton, Paolo Bernardi

    Julkaistu 2014
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    Artigo
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  15. 15
    The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

    The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation Tekijä Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G. Brunner, Pascale Guicheney, Hans van Bokhoven

    Julkaistu 2006
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  16. 16
    Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

    Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results Tekijä Luciano Merlini, Patrizia Sabatelli, Annarita Armaroli, S Gnudi, Alessia Angelin, Paolo Grumati, M.E. Michelini, A Franchella, Francesca Gualandi, Enrico Bertini, Nadir Mario Maraldi, Alessandra Ferlini, Paolo Bonaldo, Paolo Bernardi

    Julkaistu 2011
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  17. 17
    Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration

    Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration Tekijä Paolo Grumati, Luisa Coletto, Patrizia Sabatelli, Matilde Cescon, Alessia Angelin, Enrico Bertaggia, Bert Blaauw, Anna Urciuolo, Tania Tiepolo, Luciano Merlini, Nadir M. Maraldi, Paolo Bernardi, Marco Sandri, Paolo Bonaldo

    Julkaistu 2010
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  18. 18
    Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis

    Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis Tekijä Patrizia Sabatelli, Francesca Gualandi, Sudheer Kumar Gara, Paolo Grumati, Alessandra Zamparelli, E. Martoni, Camilla Pellegrini, Luciano Merlini, Alessandra Ferlini, Paolo Bonaldo, Nadir Mario Maraldi, Mats Paulsson, Stefano Squarzoni, Raimund Wagener

    Julkaistu 2011
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  19. 19
    Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

    Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy Tekijä Luca Cartegni, Marina Raffaele di Barletta, Rita Barresi, Stefano Squarzoni, Patrizia Sabatelli, Nadir M. Maraldi, Marina Mora, Claudia Di Blasi, F. Cornelio, Luciano Merlini, Antonello Villa, Fabio Cobianchi, Daniela Toniolo

    Julkaistu 1997
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    Artigo
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  20. 20
    Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

    Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies Tekijä Rachele Cagliani, Francesca Magri, Antonio Toscano, Luciano Merlini, Francesco Fortunato, C. Lamperti, Carmelo Rodolico, A. Prelle, Manuela Sironi, M. Aguennouz, Patrizia Ciscato, Antonino Uncini, Maurizio Moggio, Nereo Bresolin, Giacomo P. Comi

    Julkaistu 2005
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