Výsledky vyhledávání - Silvia Torelli

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  1. 1
    Muscular Dystrophies Due to Glycosylation Defects

    Muscular Dystrophies Due to Glycosylation Defects Autor Francesco Muntoni, Silvia Torelli, Martin Brockington

    Vydáno 2008
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  2. 2
    Muscular dystrophies due to glycosylation defects

    Muscular dystrophies due to glycosylation defects Autor Francesco Muntoni, Silvia Torelli, Dominic J. Wells, S. Brown

    Vydáno 2011
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  3. 3
    Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

    Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies Autor Yung‐Yao Lin, Richard White, Silvia Torelli, Sebahattin Çirak, Francesco Muntoni, Derek L. Stemple

    Vydáno 2011
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  4. 4
    PROLAPSO DE GLÂNDULA DE TERCEIRA PÁLPEBRA EM CÃES: AVALIAÇÃO CITO E HISTOPATOLÓGICA

    PROLAPSO DE GLÂNDULA DE TERCEIRA PÁLPEBRA EM CÃES: AVALIAÇÃO CITO E HISTOPATOLÓGICA Autor Cláudia Valéria Seullner Brandão, Noeme Sousa Rocha, J T T Ranzani, P A C Antunes, Silvia Torelli

    Vydáno 2007
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  5. 5
    Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

    Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy Autor Sebahattin Çirak, Lucy Feng, Karen Anthony, Virginia Arechavala‐Gomeza, Silvia Torelli, Caroline A. Sewry, Jennifer E. Morgan, Francesco Muntoni

    Vydáno 2011
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  6. 6
    Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

    Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies Autor S. Brown, Silvia Torelli, Martin Brockington, Yeliz Yuva, C. Jimenez‐Mallebrera, Lucy Feng, Louise V.B. Anderson, I. Ugo, Stephan Kröger, Kate Bushby, Thomas Voit, Caroline A. Sewry, Francesco Muntoni

    Vydáno 2004
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  7. 7
    Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

    Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant Autor Emma Clement, Caroline Godfrey, Jenny Tan, Martin Brockington, Silvia Torelli, Lucy Feng, S. Brown, C. Jimenez‐Mallebrera, Caroline A. Sewry, Cheryl Longman, R. Mein, Stephen Abbs, Jiri Vajsar, Harry Schachter, Francesco Muntoni

    Vydáno 2008
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  8. 8
    Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

    Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan... Autor Martin Brockington, Derek J. Blake, Paola Prandini, S. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, B. Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

    Vydáno 2001
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  9. 9
    Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration

    Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration Autor Anna Urciuolo, Luca Urbani, Silvia Perin, Panagiotis Maghsoudlou, Federico Scottoni, Asllan Gjinovci, Henry Collins‐Hooper, Stavros Loukogeorgakis, Athanasios Tyraskis, Silvia Torelli, Elena Germinario, Mario Enrique Alvarèz Fallas, Carla Julia-Vilella, Simon Eaton, Bert Blaauw, Ketan Patel, Paolo De Coppi

    Vydáno 2018
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  10. 10
    Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

    Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy Autor Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giuliana Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni

    Vydáno 2022
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  11. 11
    A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

    A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Seve... Autor C. Jimenez‐Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Emma Clement, R. Mein, Stephen Abbs, S. Brown, Kevin P. Campbell, Stephan Kröger, Beril Talim, Haluk Topaloğlu, Rosaline C. M. Quinlivan, Helen Roper, Anne Marie Childs, Maria Kinali, Caroline A. Sewry, Francesco Muntoni

    Vydáno 2008
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  12. 12
    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Autor C. Godfrey, Emma Clement, R. Mein, Martin Brockington, James E. Smith, Beril Talim, Volker Straub, S. Robb, Rosaline C. M. Quinlivan, L. Feng, C. Jimenez‐Mallebrera, E. Mercuri, A. Manzur, Maria Kinali, Silvia Torelli, S. Brown, C. Sewry, K. Bushby, Haluk Topaloğlu, Kathryn N. North, Stephen Abbs, Francesco Muntoni

    Vydáno 2007
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  13. 13
    Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

    Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials Autor Karen Anthony, Sebahattin Çirak, Silvia Torelli, Giorgio Tasca, Lucy Feng, Virginia Arechavala‐Gomeza, Annarita Armaroli, Michela Guglieri, C.S.M. Straathof, Jan J.G.M. Verschuuren, Annemieke Aartsma‐Rus, P. Helderman-van den Enden, K. Bushby, Volker Straub, Caroline A. Sewry, Alessandra Ferlini, Enzo Ricci, Jennifer E. Morgan, Francesco Muntoni

    Vydáno 2011
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  14. 14
    Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

    Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-... Autor Sebahattin Çirak, Virginia Arechavala‐Gomeza, Michela Guglieri, Lucy Feng, Silvia Torelli, Karen Anthony, Stephen Abbs, Maria Elena Garralda, John Bourke, Dominic J. Wells, George Dickson, Matthew J. A. Wood, Steve D. Wilton, Volker Straub, Ryszard Kole, Stephen B. Shrewsbury, Caroline A. Sewry, Jennifer E. Morgan, Kate Bushby, Francesco Muntoni

    Vydáno 2011
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  15. 15
    Dystrophin quantification

    Dystrophin quantification Autor Karen Anthony, Virginia Arechavala‐Gomeza, Laura E. Taylor, Adeline Vulin, Yuuki Kaminoh, Silvia Torelli, Lucy Feng, Narinder Janghra, Gisèle Bonne, Maud Beuvin, Rita Barresi, Matt Henderson, Steven H. Laval, Afrodite Lourbakos, G. Campion, Volker Straub, Thomas Voït, Caroline A. Sewry, Jennifer E. Morgan, Kevin M. Flanigan, Francesco Muntoni

    Vydáno 2014
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  16. 16
    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Autor Sebahattin Çirak, A. Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Elizabeth Stevens, Silvia Torelli, Lina Brodd, Alisa Kamynina, Petr Vondráček, Helen Roper, Cheryl Longman, Rudolf Korinthenberg, Gianni Marrosu, Peter Nürnberg, Daniel E. Michele, Vincent Plagnol, Matt Hurles, Steven A. Moore, Caroline A. Sewry, Kevin P. Campbell, Thomas Voït, Francesco Muntoni

    Vydáno 2013
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  17. 17
    Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

    Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Autor Elizabeth Stevens, Keren Carss, Sebahattin Çirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Göknur Haliloğlu, Dıclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew E. Hurles, Kevin P. Campbell, M. Chiara Manzini, Derek L. Stemple, Yung‐Yao Lin, Francesco Muntoni

    Vydáno 2013
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  18. 18
    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling Autor Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan

    Vydáno 2013
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  19. 19
    Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

    Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan Autor Keren Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Çirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A. Moore, Sonia Messina, Enrico Bertini, Carsten G. Bönnemann, José E. Abdenur, Carla Grosmann, Akanchha Kesari, Jaya Punetha, Rosaline C. M. Quinlivan, Leigh B. Waddell, Helen Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline A. Sewry, Daniel G. MacArthur, Kathryn N. North, Eric P. Hoffman, Derek L. Stemple, Matthew E. Hurles, Hans van Bokhoven, Kevin P. Campbell, Dirk Lefeber, Yung‐Yao Lin, Francesco Muntoni

    Vydáno 2013
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