Volker Straub

Research interests

Publications

• Genome Sequencing for Diagnosing Rare Diseases

  New England Journal of Medicine · 2024 · https://doi.org/10.1056/nejmoa2314761

• Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

  The Lancet Neurology · 2021 · 10.1016/s1474-4422(21)00251-9

• Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

  Neurology · 2020 · 10.1212/wnl.0000000000009233

• Congenital Titinopathy: Comprehensive characterization and pathogenic insights

  Annals of Neurology · 2018 · https://doi.org/10.1002/ana.25241

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

  Neuromuscular Disorders · 2018 · 10.1016/j.nmd.2018.05.007

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  Science Translational Medicine · 2017 · https://doi.org/10.1126/scitranslmed.aal5209

• Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

  Journal of Neuromuscular Diseases · 2017 · https://doi.org/10.3233/jnd-170280

• The Human Phenotype Ontology in 2017

  Nucleic Acids Research · 2016 · https://doi.org/10.1093/nar/gkw1039

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

  Human Mutation · 2015 · https://doi.org/10.1002/humu.22758

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

  The Lancet Neurology · 2014 · 10.1016/s1474-4422(14)70195-4

• Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

  Neuromuscular Disorders · 2013 · https://doi.org/10.1016/j.nmd.2013.03.008

• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain · 2013 · https://doi.org/10.1093/brain/awt315

• Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study

  PLoS ONE · 2013 · https://doi.org/10.1371/journal.pone.0070993

• Titin mutation segregates with hereditary myopathy with early respiratory failure

  Brain · 2012 · https://doi.org/10.1093/brain/aws102

• Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

  Journal of Neurology Neurosurgery & Psychiatry · 2012 · 10.1136/jnnp-2012-303902

• 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

  The Lancet · 2011 · https://doi.org/10.1016/s0140-6736(11)60756-3

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

  Annals of Neurology · 2010 · 10.1002/ana.22119

• 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

  The Lancet Neurology · 2009 · https://doi.org/10.1016/s1474-4422(09)70211-x

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

  Brain · 2009 · 10.1093/brain/awp236

• A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy

  Annals of Neurology · 2008 · 10.1002/ana.21338

• Managing Duchenne muscular dystrophy – The additive effect of spinal surgery and home nocturnal ventilation in improving survival

  Neuromuscular Disorders · 2007 · 10.1016/j.nmd.2007.03.002

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

  Brain · 2007 · 10.1093/brain/awm212

• 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

  The American Journal of Human Genetics · 2002 · 10.1086/342719

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

  Nature · 2002 · 10.1038/nature00837

• Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

  Developmental Cell · 2001 · 10.1016/s1534-5807(01)00070-3

• Secondary calpain3 deficiency in 2q-linked muscular dystrophy

  Neurology · 2001 · https://doi.org/10.1212/wnl.56.7.869

• Disruption of the Sarcoglycan–Sarcospan Complex in Vascular Smooth Muscle

  Cell · 1999 · 10.1016/s0092-8674(00)81975-3

• Progressive Muscular Dystrophy in α-Sarcoglycan–deficient Mice

  The Journal of Cell Biology · 1998 · 10.1083/jcb.142.6.1461

• Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption

  The Journal of Cell Biology · 1997 · 10.1083/jcb.139.2.375

• Muscular dystrophies and the dystrophin–glycoprotein complex

  Current Opinion in Neurology · 1997 · 10.1097/00019052-199704000-00016

Current projects

No projects listed.