Αποτελέσματα αναζήτησης - Caroline A. Sewry
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A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy από Alessandra Ferlini, Nazzareno Galiè, Luciano Merlini, Caroline A. Sewry, Angelo Branzi, Francesco Muntoni
Έκδοση 1998Artigo -
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Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy από Sebahattin Çirak, Lucy Feng, Karen Anthony, Virginia Arechavala‐Gomeza, Silvia Torelli, Caroline A. Sewry, Jennifer E. Morgan, Francesco Muntoni
Έκδοση 2011Artigo -
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Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies από Narinder Janghra, Jennifer E. Morgan, Caroline A. Sewry, Francis X. Wilson, Kay E. Davies, Francesco Muntoni, Jonathon M. Tinsley
Έκδοση 2016Artigo -
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A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. από Francesco Muntoni, Leigh Wilson, Maria Giovanna Marrosu, Maria Giovanna Marrosu, Carlo Cianchetti, Luisa Mestroni, Antonello Ganau, Victor Dubowitz, Caroline A. Sewry
Έκδοση 1995Artigo -
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Distal myopathy caused by homozygous missense mutations in the nebulin gene από Carina Wallgren‐Pettersson, Vilma‐Lotta Lehtokari, Hannu Kalimo, Anders Paetau, E. Matti Nuutinen, Peter Hackman, Caroline A. Sewry, Katarina Pelin, Bjarne Udd
Έκδοση 2007Artigo -
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Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 από Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloğlu, Francesco Muntoni, Sylvana Pavek, Caroline A. Sewry, M. Mayer, Michel Fardeau, F.M.S. Tomé, Pascale Guicheney
Έκδοση 1998Artigo -
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Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development από K. Natalie Randles, Le Thanh Lam, Caroline A. Sewry, Megan J. Puckelwartz, Denis Furling, Manfred Wehnert, Elizabeth M. McNally, Glenn E. Morris
Έκδοση 2010Artigo -
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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing από 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
Έκδοση 2013Artigo -
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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins από 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
Έκδοση 2006Artigo -
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Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene από 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
Έκδοση 2005Artigo -
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Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies από 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
Έκδοση 2004Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Medicine
Gene
Internal medicine
Pathology
Biopsy
Muscle biopsy
Muscular dystrophy
Mutation
Myopathy
Cell biology
Endocrinology
Anatomy
Congenital myopathy
Skeletal muscle
Phenotype
Dystrophin
Myocyte
Exon
Congenital muscular dystrophy
Duchenne muscular dystrophy
Muscle weakness
Compound heterozygosity
Immunohistochemistry
Nemaline myopathy
RYR1
Ryanodine receptor
Weakness
Dystroglycan