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Author Details

Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
1987
383
74
PMIDPaper TitleJournal TitlePublished Year
37973950Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Eur J Hum Genet2024
37853102Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Eur J Hum Genet2024
36264506Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.Acta Neuropathol2023
37598009Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.Neuromuscul Disord2023
37591308An update on Becker muscular dystrophy.Curr Opin Neurol2023
37485359Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.iScience2023
37704504Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.Neuromuscul Disord2023
37588275Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.Neurol Genet2023
37516995Neuromuscular disease genetics in under-represented populations: increasing data diversity.Brain2023
37768006Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?Endocr Connect2023
37603075Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.J Neurol2023
37673877Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.Cell Death Dis2023
37208496Global synergistic actions to improve brain health for human development.Nat Rev Neurol2023
37440793Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.Neurol Genet2023
37104941A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.Neuromuscul Disord2023
36972667Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.Neuromuscul Disord2023
37037050A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.Neuromuscul Disord2023
37036722Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.JAMA Neurol2023
37099511Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.PLoS One2023
36753800Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases.Neuromuscul Disord2023
36725339<i>DMD</i> Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials.Neurology2023
36689846Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.Neuromuscul Disord2023
36911945The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.J Neuromuscul Dis2023
36639056Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.Eur J Med Genet2023
36453228T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy.Hum Gene Ther2023
36335084Understanding paediatric data standards challenges through academia-industry partnerships: A conect4children (c4c) qualitative study.Int J Health Plann Manage2023
34515763Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.Brain2022
35381069Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.JAMA2022
35506767Comparison of strength testing modalities in dysferlinopathy.Muscle Nerve2022
35373496Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.J Cachexia Sarcopenia Muscle2022
35607917Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.Hum Mutat2022
35396092Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls.Neuromuscul Disord2022
35393337<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum.J Med Genet2022
35359643Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.Front Neurol2022
35779205Treatment Pathways and Health Outcomes of German Patients with Chronic Graft-Versus-Host Disease After Allogeneic Hematopoietic Cell Transplantation: A Retrospective Health Claims Data Analysis.Drugs Real World Outcomes2022
35484142Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.Nat Commun2022
35618441Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.Neurology2022
36447272Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice.Skelet Muscle2022
36036925Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.JAMA Neurol2022
35932452Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.Phys Ther2022
35962550Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.Neuropathol Appl Neurobiol2022
36058852Water T2 could predict functional decline in patients with dysferlinopathy.J Cachexia Sarcopenia Muscle2022
36195757Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Nat Genet2022
35191394Combined growth hormone and insulin-like growth factor-1 rescues growth retardation in glucocorticoid-treated mdxmice but does not prevent osteopenia.J Endocrinol2022
35179231Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.Muscle Nerve2022
35239206Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.Eur J Neurol2022
34961728Patient reported quality of life in limb girdle muscular dystrophy.Neuromuscul Disord2022
34788571Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial.Nucleic Acid Ther2022
34606104Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.Muscle Nerve2022
33012180A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians.Clin Trials2021
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Co-authored papers 141
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Co-authored papers 87
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UCL Great Ormond Street Institute of Child Health
Co-authored papers 77
Anna Sarkozy
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School of Clinical Medicine, University of Cambridge
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The University of Notre Dame Australia
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Henry Houlden
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Cathy Turner
Institute of Genetic Medicine, Newcastle University International Centre for Life
Co-authored papers 5
Nancy L Kuntz
Lurie Children's Hospital
Co-authored papers 5
Rachel Thompson
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 5
Loren D M Pena
Duke University Medical Center
Co-authored papers 4
Mark R Davis
QEII Medical Centre, Hospital Avenue
Co-authored papers 4
Glenn A Walter
College of Medicine, University of Florida
Co-authored papers 4
Manuel Posada
Institute of Rare Diseases Research, Instituto de Salud Carlos III
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Hugh J McMillan
Montreal Children's Hospital, McGill University
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Jana Vandrovcova
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David Salgado
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Peter A C 't Hoen
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Release 1.2