Caroline Sewry

Overview

Best Publications

• Muscle Biopsy: A Practical Approach

  Victor Dubowitz;Caroline A. Sewry;Anders Oldfors;Russell J. M. Lane

  2112
  Citations

• 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

  Maria Kinali;Maria Kinali;Virginia Arechavala-Gomeza;Lucy Feng;Sebahattin Cirak

  952
  Citations

• 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

  674
  Citations

• 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;Yeliz Yuva;Paola Prandini;Susan C. Brown

  580
  Citations

• 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

  490
  Citations

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

  Caroline Godfrey;Emma Clement;Rachael Mein;Martin Brockington

  459
  Citations

• 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 Wilce

  453
  Citations

• Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

  Gary L. Brodsky;Francesco Muntoni;Snjezana Miocic;Gianfranco Sinagra

  418
  Citations

• Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy

  Duygu Selcen;Francesco Muntoni;Barbara K. Burton;Elena Pegoraro

  379
  Citations

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

  Clare V Logan;György Szabadkai;György Szabadkai;Jenny A Sharpe;David A Parry

  376
  Citations

• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

  Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry

  358
  Citations

• Diagnostic approach to the congenital muscular dystrophies

  Carsten C.G. Bönnemann;Ching C.H. Wang;Susana Quijano-Roy;Nicolas Deconinck

  338
  Citations

• De Novo LMNA Mutations Cause a New Form of Congenital Muscular Dystrophy

  Susana Quijano-Roy;Blaise Mbieleu;Carsten G. Bönnemann;Pierre Yves Jeannet

  294
  Citations

• Approach to the diagnosis of congenital myopathies

  Kathryn N. North;Kathryn N. North;Ching H. Wang;Nigel Clarke;Heinz Jungbluth;Heinz Jungbluth

  293
  Citations

• RYR1 mutations are a common cause of congenital myopathies with central nuclei

  J M Wilmshurst;S Lillis;H Zhou;K Pillay

  282
  Citations

• Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

  Thomas Cullup;Ay Lin Kho;Carlo Dionisi-Vici;Birgit Brandmeier

  273
  Citations

• Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

  Eugenio Mercuri;Eugenio Mercuri;Eugenio Mercuri;Martin Brockington;Volker Straub;Susana Quijano-Roy

  259
  Citations

• Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal

  J. Philpot;C. Sewry;J. Pennock;V. Dubowitz

  243
  Citations

• Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

  Ching C.H. Wang;Carsten C.G. Bönnemann;Anne A. Rutkowski;Thomas T. Sejersen

  239
  Citations

• Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

  Keren J. Carss;Elizabeth Stevens;A. Reghan Foley;Sebahattin Cirak;Sebahattin Cirak

  234
  Citations