Caroline Sewry

Best Publications

• Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

  Sebahattin Cirak;Virginia Arechavala-Gomeza;Michela Guglieri;Lucy Feng

  1228
  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

• The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein

  S. Manilal;Nguyen thi Man;C. A. Sewry;G. E. Morris

  507
  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

• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

  Gianina Ravenscroft;Satoko Miyatake;Vilma Lotta Lehtokari;Emily J. Todd

  218
  Citations

• Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

  H. Jungbluth;C.R. Muller;B. Halliger-Keller;M. Brockington

  217
  Citations

• Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion

  J. Poulton;K. Morten;C. Freeman-Emmerson;C. Potter

  198
  Citations

• Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

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

  193
  Citations

• The spectrum of pathology in central core disease.

  C.A. Sewry;C. Muller;M. Davis;J.S.M. Dwyer

  189
  Citations

• Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

  Karen Anthony;Sebahattin Cirak;Silvia Torelli;Giorgio Tasca

  170
  Citations

• Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

  Unknown

  169
  Citations

• Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

  F. Muntoni;G. Bonne;L. G. Goldfarb;E. Mercuri

  166
  Citations

• Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies

  Andrea Klein;Suzanne Lillis;Iulia Munteanu;Mariacristina Scoto

  164
  Citations

• Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

  A. Carrie;F. Piccolo;F. Leturcq;C. De Toma

  163
  Citations

• Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

  H. Jungbluth;H. Zhou;L. Hartley;B. Halliger-Keller

  152
  Citations

• Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

  Sebahattin Cirak;Lucy Feng;Karen Anthony;Virginia Arechavala-Gomeza

  147
  Citations

• Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

  M.R. Davis;E. Haan;H. Jungbluth;C. Sewry

  145
  Citations

• Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

  Irina T. Zaharieva;Michael G. Thor;Emily C. Oates;Emily C. Oates;Clara Van Karnebeek

  122
  Citations

• Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

  Mariacristina Scoto;Alexander M Rossor;Matthew B Harms;Sebahattin Cirak

  120
  Citations

• Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

  Emily J. Todd;Kyle S. Yau;Royston Ong;Jennie Slee

  120
  Citations