Volker Straub

Overview

Best Publications

• Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

  Richard S. Finkel;Eugenio Mercuri;Basil T. Darras;Anne M. Connolly

  2302
  Citations

• 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

• Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

  Daniel E. Michele;Rita Barresi;Motoi Kanagawa;Fumiaki Saito

  898
  Citations

• Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

  Aruto Yoshida;Kazuhiro Kobayashi;Hiroshi Manya;Kiyomi Taniguchi

  833
  Citations

• The Human Phenotype Ontology in 2017

  Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  826
  Citations

• The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

  Catherine L. Bladen;David Salgado;Soledad Monges;Maria E. Foncuberta

  678
  Citations

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

  674
  Citations

• A Phase I/II trial of MYO-029 in Adult Subjects with Muscular Dystrophy

  Kathryn R. Wagner;James L. Fleckenstein;Anthony A. Amato;Richard J. Barohn

  598
  Citations

• Animal models for muscular dystrophy show different patterns of sarcolemmal disruption

  Volker Straub;Jill A. Rafael;Jeffrey S. Chamberlain;Kevin P. Campbell

  585
  Citations

• Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

  Fiona L. M. Norwood;Chris Harling;Patrick F. Chinnery;Michelle Eagle

  584
  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

• Muscular dystrophies and the dystrophin–glycoprotein complex

  Volker Straub;Kevin P. Campbell

  485
  Citations

• Disruption of the Sarcoglycan–Sarcospan Complex in Vascular Smooth Muscle: A Novel Mechanism for Cardiomyopathy and Muscular Dystrophy

  Ramon Coral-Vazquez;Ronald D Cohn;Steven A Moore;Joseph A Hill

  462
  Citations

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

  Caroline Godfrey;Emma Clement;Rachael Mein;Martin Brockington

  459
  Citations

• Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

  Ana Ferreiro;Susana Quijano-Roy;Claire Pichereau;Behzad Moghadaszadeh

  440
  Citations

• Progressive Muscular Dystrophy in α-Sarcoglycan–deficient Mice

  Franck Duclos;Volker Straub;Steven A. Moore;David P. Venzke

  418
  Citations

• Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival.

  Michelle Eagle;John Bourke;Robert Bullock;Mike Gibson

  390
  Citations

• Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study.

  Thomas Voit;Haluk Topaloglu;Volker Straub;Francesco F. Muntoni

  383
  Citations

• 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

  Volker Straub;Alexander Murphy;Bjarne Udd;Angelini Corrado

  329
  Citations