Risultati della ricerca - C. Sewry

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  1. 1
    A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

    A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis di Stefen Brady, Waney Squier, C. Sewry, Michael G. Hanna, David Hilton‐Jones, Janice L. Holton

    Pubblicazione 2014
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  2. 2
    Effect of Ryanodine Receptor Mutations on Interleukin-6 Release and Intracellular Calcium Homeostasis in Human Myotubes from Malignant Hyperthermia-susceptible Individuals and Patients Affected by Central Core Disease

    Effect of Ryanodine Receptor Mutations on Interleukin-6 Release and Intracellular Calcium Homeostasis in Human Myotubes from Malignant Hyperthermia-susceptible Individuals and Pati... di Sylvie Ducreux, Francesco Zorzato, Clemens R. Müller, C. Sewry, Francesco Muntoni, Rosaline C. M. Quinlivan, Gabriella Restagno, Thierry Girard, Susan Treves

    Pubblicazione 2004
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  3. 3
    1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

    1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018 di Bjarne Udd, Werner Stenzel, Anders Oldfors, Montse Olivé, Norma B. Romero, Martin Lammens, Benno Küsters, C. Sewry, Hans‐Hilmar Goebel, Teresinha Evangelista

    Pubblicazione 2019
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  4. 4
    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan di 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

    Pubblicazione 2007
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  5. 5
    Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

    Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies di Haiyan Zhou, Heinz Jungbluth, C. Sewry, Longhua Feng, Enrico Bertini, K. Bushby, Volker Straub, H. Roper, Michael R. Rose, Martin Brockington, Maria Kinali, Adnan Manzur, S. Robb, Richard Appleton, Sonia Messina, Adele D'Amico, Rosaline C. M. Quinlivan, Michael Swash, C. R. Müller, S. Brown, Susan Treves, Francesco Muntoni

    Pubblicazione 2007
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  6. 6
    Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

    Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy di Joachim Schessl, Yaqun Zou, Meagan J. McGrath, Belinda S. Cowling, Baijayanta Maiti, Steven S. Chin, C. Sewry, Roberta Battini, Ying Hu, Denny L. Cottle, Michael Rosenblatt, Lynn A. Spruce, Arupa Ganguly, Janbernd Kirschner, Alexander R. Judkins, Jeffrey A. Golden, Hans‐Hilmar Goebel, Francesco Muntoni, Kevin M. Flanigan, Christina A. Mitchell, Carsten G. Bönnemann

    Pubblicazione 2008
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  7. 7
    Muscle histology vs MRI in Duchenne muscular dystrophy

    Muscle histology vs MRI in Duchenne muscular dystrophy di Maria Kinali, Virginia Arechavala‐Gomeza, Sebahattin Çirak, Alan Glover, Michela Guglieri, L. Feng, Kieren G. Hollingsworth, David M. Hunt, Heinz Jungbluth, Helen Roper, Rosaline C. M. Quinlivan, Jayaprakash Gosalakkal, Sandeep Jayawant, Amélie Nadeau, L. Hughes-Carre, A. Manzur, Eugenio Mercuri, Jennifer E. Morgan, Volker Straub, K. Bushby, C. Sewry, Mary Rutherford, Francesco Muntoni

    Pubblicazione 2011
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  8. 8
    Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

    Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce... di Maria Kinali, Virginia Arechavala‐Gomeza, Lucy Feng, Sebahattin Çirak, David M. Hunt, C. Adkin, Michela Guglieri, Emma Ashton, Stephen Abbs, Petros Nihoyannopoulos, Maria Elena Garralda, Mary Rutherford, Caroline McCulley, Linda Popplewell, Ian R. Graham, George Dickson, Matthew J. A. Wood, Dominic J. Wells, Steve D. Wilton, Ryszard Kole, Volker Straub, Kate Bushby, C. Sewry, Jennifer E. Morgan, Francesco Muntoni

    Pubblicazione 2009
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  9. 9
    Consensus Statement on Standard of Care for Congenital Myopathies

    Consensus Statement on Standard of Care for Congenital Myopathies di Ching H. Wang, James J. Dowling, Kathryn N. North, Mary Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali E. Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, C. Bönnemann, Nigel F. Clarke, Anne M. Connolly, Brigitte Estournet-Mathiaud, Dominic A. Fitzgerald, Julaine Florence, Richard Gee, Juliana Gurgel‐Giannetti, Allan M. Glanzman, Brittany Hofmeister, Heinz Jungbluth, Anastassios C. Koumbourlis, Nigel G. Laing, Marion Main, Leslie Morrison, Craig Munns, Kristy Rose, Pamela M. Schuler, C. Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan

    Pubblicazione 2012
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