| human | Q5 |
| P269 | IdRef ID | 259815462 |
| P496 | ORCID iD | 0000-0001-9046-3540 |
| P1153 | Scopus author ID | 7003355969 |
| P214 | VIAF ID | 173164476044725910558 |
| P108 | employer | Newcastle University | Q837164 |
| P734 | family name | Straub | Q15732188 |
| Straub | Q15732188 | ||
| Straub | Q15732188 | ||
| P735 | given name | Volker | Q1576766 |
| Volker | Q1576766 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | male | Q6581097 |
| Q45105818 | 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands |
| Q90589536 | 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017 |
| Q50885543 | A 'second truncation' in TTN causes early onset recessive muscular dystrophy. |
| Q46533652 | A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa |
| Q55023653 | A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. |
| Q112583090 | A form of muscular dystrophy associated with pathogenic variants in JAG2 |
| Q33685709 | A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy |
| Q48695686 | A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy |
| Q90213097 | A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement |
| Q89129200 | A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair |
| Q45800786 | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene |
| Q28272415 | A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy |
| Q39003495 | A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene |
| Q24337859 | AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration |
| Q43975535 | ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation |
| Q37934214 | Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency |
| Q33991470 | Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies |
| Q51712172 | Airway nitric oxide in Duchenne muscular dystrophy. |
| Q24642919 | An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1 |
| Q37022712 | Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. |
| Q37396900 | Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy |
| Q37183967 | Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy |
| Q43242415 | Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism |
| Q58455935 | BAG3 myopathy is not always associated with cardiomyopathy |
| Q34600310 | Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy |
| Q50755253 | Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. |
| Q33391488 | Brain involvement in muscular dystrophies with defective dystroglycan glycosylation |
| Q47906360 | Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. |
| Q37265157 | Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study |
| Q57389979 | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies |
| Q57334263 | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies |
| Q51278569 | Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. |
| Q33442763 | Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains |
| Q36560420 | Compliance to Care Guidelines for Duchenne Muscular Dystrophy |
| Q48205175 | Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period |
| Q57334284 | Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations |
| Q53600781 | Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. |
| Q46113965 | Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy |
| Q50519756 | Corrigendum to "Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)" [Neuromuscular Disorders 25 (2015) 937-944]. |
| Q57390152 | Das Muskeldystrophie-Netzwerk MD-NET |
| Q48667002 | Deficiency of alpha-dystroglycan in muscle-eye-brain disease |
| Q46718015 | Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit. |
| Q36078437 | Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides |
| Q40413384 | Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT). |
| Q38291016 | Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). |
| Q34651506 | Diagnosis of Pompe disease: muscle biopsy vs blood-based assays |
| Q42549173 | Direct visualization of the dystrophin network on skeletal muscle fiber membrane |
| Q34327042 | Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? |
| Q38346538 | Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes |
| Q57390058 | Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle |
| Q30367980 | Dysferlin-deficient muscular dystrophy features amyloidosis. |
| Q35055089 | Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy |
| Q35606737 | Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials |
| Q34591203 | Dystrophin quantification: Biological and translational research implications |
| Q37597697 | Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis |
| Q48551355 | Emotional impact of a paediatric exon-skipping therapy trial |
| Q41590349 | Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy |
| Q24616493 | 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 |
| Q34034012 | Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen |
| Q33543165 | Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations |
| Q57389875 | Fibronectin is a serum biomarker for Duchenne muscular dystrophy |
| Q40158281 | From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis |
| Q28485060 | Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational |
| Q37105702 | Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study |
| Q41766907 | Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy |
| Q34560899 | Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect |
| Q47708260 | Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness |
| Q24339386 | Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A |
| Q42343467 | Improving genetic diagnosis in Mendelian disease with transcriptome sequencing |
| Q53162951 | Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of R2* changes. |
| Q34607647 | Improving recognition of Duchenne muscular dystrophy: a retrospective case note review |
| Q27324539 | Improving the informed consent process in international collaborative rare disease research: effective consent for effective research |
| Q33976346 | Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation |
| Q35014916 | Interventions for muscular dystrophy: molecular medicines entering the clinic |
| Q42950227 | Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy |
| Q39292845 | Investigating the quantitative fidelity of prospectively undersampled chemical shift imaging in muscular dystrophy with compressed sensing and parallel imaging reconstruction |
| Q38795106 | Limb-girdle muscular dystrophies - international collaborations for translational research |
| Q57390105 | Limb–girdle muscular dystrophies |
| Q24643018 | 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 |
| Q34469185 | Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle |
| Q92278506 | Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy |
| Q38315284 | Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome |
| Q37385146 | Lower limb radiology of distal myopathy due to the S60F myotilin mutation |
| Q47413747 | MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes |
| Q36816378 | Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival |
| Q44619945 | Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe |
| Q46210700 | Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy |
| Q50043466 | Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy |
| Q48177089 | Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies |
| Q52616185 | Multidisciplinary Clinics. |
| Q57389944 | Muscle MRI findings in limb girdle muscular dystrophy type 2L |
| Q56969254 | Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials |
| Q38302852 | Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy |
| Q34425741 | Muscular dystrophies and the dystrophin-glycoprotein complex |
| Q46702652 | Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype |
| Q34248693 | Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
| Q30032671 | Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment |
| Q24532191 | Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy |
| Q27333715 | Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission |
| Q46176595 | Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy |
| Q24617292 | 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 |
| Q64885267 | Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints. |
| Q34289381 | New aspects on patients affected by dysferlin deficient muscular dystrophy |
| Q58611217 | Noninvasive quantification of fibrosis in skeletal and cardiac muscle in mdx mice using EP3533 enhanced magnetic resonance imaging |
| Q36254759 | Nonmolecular treatment for muscular dystrophies |
| Q90614574 | Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy |
| Q51598108 | Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease. |
| Q37662574 | Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments |
| Q35304215 | Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene |
| Q48350456 | Phenotypic spectrum associated with mutations in the fukutin-related protein gene |
| Q35680803 | Phenotypic variability of TRPV4 related neuropathies |
| Q42524150 | Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies |
| Q43815465 | Presymptomatic late-onset Pompe disease identified by the dried blood spot test |
| Q33685609 | Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population |
| Q61527130 | Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation |
| Q48743765 | Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors |
| Q51294715 | Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. |
| Q46933420 | Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study |
| Q50422441 | Psychometric analysis of the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module administered to patients with Duchenne muscular dystrophy: A Rasch analysis |
| Q47288297 | Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis |
| Q36879404 | Quantifying the burden of caregiving in Duchenne muscular dystrophy |
| Q37610370 | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study |
| Q34963315 | Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study |
| Q53515475 | Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. |
| Q38543807 | Recent advances in the management of Duchenne muscular dystrophy |
| Q43003614 | Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion |
| Q48438636 | Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion |
| Q90982539 | Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy |
| Q39028061 | Reduced serum myostatin concentrations associated with genetic muscle disease progression |
| Q28249364 | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan |
| Q59876191 | Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017 |
| Q33840898 | Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy |
| Q57261213 | Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials |
| Q37397675 | S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice |
| Q45033314 | Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study |
| Q44980660 | Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? |
| Q55042371 | Severe phenotype in infantile facioscapulohumeral muscular dystrophy. |
| Q38542566 | Short stature and pubertal delay in Duchenne muscular dystrophy |
| Q36439237 | Spontaneous keloid formation in patients with Bethlem myopathy |
| Q46718147 | Standards of care in neuromuscular fields |
| Q33614798 | Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders |
| Q48148090 | Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study |
| Q40498820 | Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy |
| Q37610524 | The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies |
| Q37197499 | The Clinical Outcome Study for dysferlinopathy: An international multicenter study |
| Q55647999 | The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. |
| Q27927007 | The Human Phenotype Ontology in 2017 |
| Q35508913 | The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations |
| Q38406108 | The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia |
| Q28088277 | The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development |
| Q37285058 | The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases |
| Q33627845 | The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research |
| Q34079312 | The burden of Duchenne muscular dystrophy: an international, cross-sectional study |
| Q36617482 | The childhood limb-girdle muscular dystrophies |
| Q98394703 | The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification |
| Q34467798 | The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice |
| Q47189402 | The effects of ageing on mouse muscle microstructure: a comparative study of time-dependent diffusion MRI and histological assessment |
| Q67330989 | The formation of lipoquinones in tissue cultures (author's transl) |
| Q40267041 | The limb-girdle muscular dystrophies--diagnostic strategies |
| Q45174354 | The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations |
| Q37329558 | Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies |
| Q89891897 | Time-dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy |
| Q38088972 | Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure |
| Q35986692 | Titin mutation segregates with hereditary myopathy with early respiratory failure |
| Q57831005 | Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies |
| Q30444380 | Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 |
| Q43588870 | Two recurrent mutations are associated with GNE myopathy in the North of Britain. |
| Q34779932 | Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis |
| Q36150125 | Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants |
| Q38711634 | Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? |
| Q28209832 | Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease |
| Q17027854 | Human Phenotype Ontology | contributor to the creative work or subject | P767 |
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