Volker Wilhelm Straub


Ontology type: schema:Person     


Person Info

NAME

Volker Wilhelm

SURNAME

Straub

Publications in SciGraph latest 50 shown

  • 2021-06-01 Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-06-01 Solving patients with rare diseases through programmatic reanalysis of genome-phenome data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-05-31 Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis in NATURE MEDICINE
  • 2021-05-10 Solving unsolved rare neurological diseases—a Solve-RD viewpoint in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-04-10 Measurement of salivary testosterone in adolescents and young men with Duchenne muscular dystrophy in BMC ENDOCRINE DISORDERS
  • 2021-01-27 The contribution of X-linked coding variation to severe developmental disorders in NATURE COMMUNICATIONS
  • 2021-01-06 The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2021-01-03 Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients in BRAIN IMAGING AND BEHAVIOR
  • 2020-11-10 Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein in SCIENTIFIC REPORTS
  • 2020-10-14 Evidence for 28 genetic disorders discovered by combining healthcare and research data in NATURE
  • 2020-08-12 The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification in JOURNAL OF HUMAN GENETICS
  • 2020-03-21 Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy in JOURNAL OF NEUROLOGY
  • 2020-01-13 The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-01-03 POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern in ACTA NEUROPATHOLOGICA
  • 2019-11-19 A decade of optimizing drug development for rare neuromuscular disorders through TACT in NATURE REVIEWS DRUG DISCOVERY
  • 2019-10-01 Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein in SCIENTIFIC REPORTS
  • 2019-09-25 European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) in JOURNAL OF NEUROLOGY
  • 2019-08-29 MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement in ACTA NEUROPATHOLOGICA
  • 2019-08-08 ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure in SCIENTIFIC REPORTS
  • 2019-05-02 Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language in NATURE COMMUNICATIONS
  • 2019-04-25 Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy in BMC PEDIATRICS
  • 2019-02-15 Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language in NATURE COMMUNICATIONS
  • 2018-11-05 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language in NATURE COMMUNICATIONS
  • 2018-07-30 Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness in SKELETAL MUSCLE
  • 2018-05-10 A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial in TRIALS
  • 2018-02-28 Pompe Disease in NEUROMETABOLIC HEREDITARY DISEASES OF ADULTS
  • 2017-11-17 Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-09-06 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-05-26 Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy in JOURNAL OF NEUROLOGY
  • 2017-04-10 The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research in JOURNAL OF NEUROLOGY
  • 2017-04-01 Ultrasensitive Hybridization-Based ELISA Method for the Determination of Phosphorodiamidate Morpholino Oligonucleotides in Biological samples in MORPHOLINO OLIGOMERS
  • 2017-03-15 A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-01-10 Reduced serum myostatin concentrations associated with genetic muscle disease progression in JOURNAL OF NEUROLOGY
  • 2016-10-31 Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis in PHARMACOECONOMICS
  • 2016-04-01 Limb-girdle muscular dystrophies — international collaborations for translational research in NATURE REVIEWS NEUROLOGY
  • 2016-03-10 Quantifying the burden of caregiving in Duchenne muscular dystrophy in JOURNAL OF NEUROLOGY
  • 2016-02-10 Improving the informed consent process in international collaborative rare disease research: effective consent for effective research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12-01 Elusive sources of variability of dystrophin rescue by exon skipping in SKELETAL MUSCLE
  • 2015-04-23 The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-04-21 Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice in JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
  • 2013-10-27 Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe in JOURNAL OF NEUROLOGY
  • 2013-10-23 The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-05-29 Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit in BMC MUSCULOSKELETAL DISORDERS
  • 2013-05-29 Standards of care in neuromuscular fields in BMC MUSCULOSKELETAL DISORDERS
  • 2013-05-22 S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-04-12 Congenital Muscular Dystrophies in NEUROMUSCULAR IMAGING
  • 2013-04-12 Dystrophinopathies in NEUROMUSCULAR IMAGING
  • 2013-01-18 A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene in JOURNAL OF NEUROLOGY
  • 2013-01-16 Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy in JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
  • 2011-11 Neuromuscular Diseases Causing Floppy Infant Syndrome in PEDIATRIC RESEARCH
  • Affiliations

  • Newcastle University (current)
  • Rigshospitalet
  • Essen University Hospital
  • Centre for Life
  • Leiden University Medical Center
  • Ludwig-Maximilians-Universität München
  • Fraunhofer Institute for Solar Energy Systems
  • Erasmus MC
  • University of Florida
  • Glasgow Life
  • University of Pennsylvania
  • Genethon (France)
  • University of Helsinki
  • Griffith University
  • Istanbul University
  • University of Copenhagen
  • University College London
  • University of Iowa
  • Centre Hospitalier Universitaire de Liège
  • University Hospital of Basel
  • National Institute of Neurological Disorders and Stroke
  • O&O Alpan (United States)
  • Great Ormond Street Hospital
  • University of Western Australia
  • University of Duisburg-Essen
  • Centre for Biomedical Network Research on Rare Diseases
  • Royal Hospital for Children
  • Imperial College London
  • University of Oxford
  • Hacettepe University Hospital
  • University of Antwerp
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Jain Foundation
  • Institute of Myology
  • Hôpital Armand-Trousseau
  • University Medical Center Hamburg-Eppendorf
  • Catholic University of America
  • Children's Hospital of Philadelphia
  • Hammersmith Hospital
  • Walton Centre
  • Ghent University Hospital
  • Agostino Gemelli University Polyclinic
  • Hospital de Sant Pau
  • University of Birmingham
  • University of Kansas Medical Center
  • Antwerp University Hospital
  • Heinrich Heine University Düsseldorf
  • University of Sussex
  • Alexandrovska Hospital
  • Centre Hospitalier Universitaire de Nice
  • Orszagos Kornyezetegeszsegugyi Intezet
  • BioCruces Health research Institute
  • Karolinska Institute
  • Ruhrlandklinik
  • Birmingham Women's Hospital
  • JSON-LD is the canonical representation for SciGraph data.

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