C
Caroline Sewry
Researcher at Great Ormond Street Hospital
Publications - 247
Citations - 16874
Caroline Sewry is an academic researcher from Great Ormond Street Hospital. The author has contributed to research in topics: Muscular dystrophy & Congenital muscular dystrophy. The author has an hindex of 73, co-authored 245 publications receiving 15864 citations. Previous affiliations of Caroline Sewry include Imperial College London & French Institute of Health and Medical Research.
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Muscle Biopsy: A Practical Approach
TL;DR: The procedure of muscle biopsy and definition of pathological changes seen in muscle biopsies are described, as well as some of the commonly used terms.
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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Martin Brockington,Derek J. Blake,Paola Prandini,Susan C. Brown,Silvia Torelli,Silvia Torelli,Matthew A. Benson,Chris P. Ponting,Brigitte Estournet,Norma B. Romero,Eugenio Mercuri,Thomas Voit,Caroline Sewry,Caroline Sewry,Pascale Guicheney,Francesco Muntoni +15 more
TL;DR: It is suggested that abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C, which is mapped to human chromosome 19q13.
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Martin Brockington,Y Yuva,Paola Prandini,Susan C. Brown,Silvia Torelli,Matthew A. Benson,Ralf Herrmann,Louise V.B. Anderson,Rumaisa Bashir,Jean-Marc Burgunder,Shari Fallet,Norma B. Romero,Michel Fardeau,Volker Straub,Gillian Storey,C Pollitt,Isabelle Richard,Caroline Sewry,Kate Bushby,Thomas Voit,Derek J. Blake,Francesco Muntoni +21 more
TL;DR: The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome, and at least two possible haplotypes in linkage disequilibrium with this mutation.
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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
Cheryl Longman,Martin Brockington,Silvia Torelli,Cecilia Jimenez-Mallebrera,Colin Kennedy,Nofal Khalil,Lucy Feng,Ravindra K. Saran,Thomas Voit,Luciano Merlini,Caroline Sewry,Susan C. Brown,Francesco Muntoni +12 more
TL;DR: Immunoblotting with an antibody to a glycosylated epitope demonstrated a reduced molecular weight form of alpha-dystroglycan that retained some laminin binding activity and is proposed to name this new disorder MDC1D.
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Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Kristen J. Nowak,Kristen J. Nowak,Duangrurdee Wattanasirichaigoon,Hans H. Goebel,Matthew C.J. Wilce,Katarina Pelin,Kati Donner,R. Jacob,Christoph Hübner,Konrad Oexle,Janice R. Anderson,Christopher M. Verity,Kathryn N. North,Susan T. Iannaccone,Clemens R. Müller,Peter Nürnberg,Francesco Muntoni,Caroline Sewry,Imelda Hughes,Rebecca Sutphen,Atilano Lacson,Kathryn J. Swoboda,Jaqueline Vigneron,Carina Wallgren-Pettersson,Alan H. Beggs,Nigel G. Laing +25 more
TL;DR: Mutations in the human skeletal muscle α-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy, characterized by structural abnormalities of the muscle fibres and variable degrees of muscle weakness.