検索結果 - Caroline A. Sewry

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  1. 1
    Nemaline myopathies: a current view

    Nemaline myopathies: a current view 著者: Caroline A. Sewry, Jenni Laitila, Carina Wallgren‐Pettersson

    出版事項 2019
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    Revisão
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  2. 2
    Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

    Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement 著者: Gary Brodsky, Francesco Muntoni, Snježana Miočiċ, Gianfranco Sinagra, Caroline A. Sewry, Luisa Mestroni

    出版事項 2000
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    Artigo
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  3. 3
    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 著者: Alessandra Ferlini, Nazzareno Galiè, Luciano Merlini, Caroline A. Sewry, Angelo Branzi, Francesco Muntoni

    出版事項 1998
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    Artigo
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  4. 4
    Immunohistological intensity measurements as a tool to assess sarcolemma‐associated protein expression

    Immunohistological intensity measurements as a tool to assess sarcolemma‐associated protein expression 著者: Virginia Arechavala‐Gomeza, Maria Kinali, L. Feng, S. Brown, Caroline A. Sewry, Jennifer E. Morgan, Francesco Muntoni

    出版事項 2009
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    Artigo
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  5. 5
    Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

    Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies 著者: Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier, Caroline A. Sewry, Gudrun E. Moore, Francesco Muntoni

    出版事項 2006
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    Artigo
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  6. 6
    Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy

    Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy 著者: Duygu Selcen, Francesco Muntoni, Barbara K. Burton, Elena Pegoraro, Caroline A. Sewry, Anna V. Bite, Andrew G. Engel

    出版事項 2008
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    Artigo
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  7. 7
    Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms

    Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms 著者: Nguyễn Thùy Dương, Glenn E. Morris, Le Thanh Lam, Qiuping Zhang, Caroline A. Sewry, Catherine M. Shanahan, Ian Holt

    出版事項 2014
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    Artigo
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  8. 8
    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 著者: Sebahattin Çirak, Lucy Feng, Karen Anthony, Virginia Arechavala‐Gomeza, Silvia Torelli, Caroline A. Sewry, Jennifer E. Morgan, Francesco Muntoni

    出版事項 2011
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    Artigo
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  9. 9
    Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies

    Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies 著者: Narinder Janghra, Jennifer E. Morgan, Caroline A. Sewry, Francis X. Wilson, Kay E. Davies, Francesco Muntoni, Jonathon M. Tinsley

    出版事項 2016
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    Artigo
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  10. 10
    Muscleblind-Like Proteins

    Muscleblind-Like Proteins 著者: Ian Holt, Virginie Jacquemin, Majid Fardaei, Caroline A. Sewry, Gillian Butler‐Browne, Denis Furling, J. David Brook, Glenn E. Morris

    出版事項 2008
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    Artigo
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  11. 11
    A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.

    A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. 著者: Francesco Muntoni, Leigh Wilson, Maria Giovanna Marrosu, Maria Giovanna Marrosu, Carlo Cianchetti, Luisa Mestroni, Antonello Ganau, Victor Dubowitz, Caroline A. Sewry

    出版事項 1995
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    Artigo
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  12. 12
    Distal myopathy caused by homozygous missense mutations in the nebulin gene

    Distal myopathy caused by homozygous missense mutations in the nebulin gene 著者: Carina Wallgren‐Pettersson, Vilma‐Lotta Lehtokari, Hannu Kalimo, Anders Paetau, E. Matti Nuutinen, Peter Hackman, Caroline A. Sewry, Katarina Pelin, Bjarne Udd

    出版事項 2007
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    Artigo
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  13. 13
    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 著者: Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloğlu, Francesco Muntoni, Sylvana Pavek, Caroline A. Sewry, M. Mayer, Michel Fardeau, F.M.S. Tomé, Pascale Guicheney

    出版事項 1998
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    Artigo
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  14. 14
    Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development

    Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development 著者: K. Natalie Randles, Le Thanh Lam, Caroline A. Sewry, Megan J. Puckelwartz, Denis Furling, Manfred Wehnert, Elizabeth M. McNally, Glenn E. Morris

    出版事項 2010
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    Artigo
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  15. 15
    Deletions in the 5' region of dystrophin and resulting phenotypes.

    Deletions in the 5' region of dystrophin and resulting phenotypes. 著者: Francesco Muntoni, Paola Gobbi, Caroline A. Sewry, T G Sherratt, Jacqueline Taylor, Sukhinder K. Sandhu, Stephen Abbs, Roland G. Roberts, S V Hodgson, Martin Bobrow

    出版事項 1994
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    Artigo
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  16. 16
    Congenital myopathies

    Congenital myopathies 著者: Irene Colombo, Mariacristina Scoto, Adnan Y. Manzur, S. Robb, Lorenzo Maggi, Vasantha Gowda, Thomas Cullup, Michael Yau, Rahul Phadke, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    出版事項 2014
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    Artigo
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  17. 17
    Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

    Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing 著者: Mariacristina Scoto, Thomas Cullup, Sebahattin Çirak, Shu Yau, Adnan Y. Manzur, Lucy Feng, Thomas S. Jacques, Glenn Anderson, Stephen Abbs, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    出版事項 2013
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    Artigo
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  18. 18
    Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

    Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins 著者: Francesco Muntoni, Gisèle Bonne, Lev G. Goldfarb, Eugenio Mercuri, Richard J. Piercy, Margaret Burke, Rabah Ben Yaou, Pascale Richard, Dominique Récan, Aleksey Shatunov, Caroline A. Sewry, S. Brown

    出版事項 2006
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    Artigo
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  19. 19
    Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

    Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene 著者: Eugenio Mercuri, S. Brown, Petros Nihoyannopoulos, Joanna Poulton, Maria Kinali, Pascale Richard, Richard J. Piercy, Sonia Messina, Caroline A. Sewry, Margaret Burke, William J. McKenna, Gisèle Bonne, Francesco Muntoni

    出版事項 2005
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    Artigo
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  20. 20
    Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

    Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies 著者: 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

    出版事項 2004
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    Artigo
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