about
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationImmunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2AMutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studyMutations 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 myopathiesAn X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyImproving the informed consent process in international collaborative rare disease research: effective consent for effective research.Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionThe Human Phenotype Ontology in 2017The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentWorldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanA phase I/IItrial of MYO-029 in adult subjects with muscular dystrophyGuidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentDysferlin-deficient muscular dystrophy features amyloidosis.Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchPrevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophyInheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationAffinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophiesExon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.The burden of Duchenne muscular dystrophy: an international, cross-sectional study.Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossNew aspects on patients affected by dysferlin deficient muscular dystrophyDoes delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice.Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscleHexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.Dystrophin quantification: Biological and translational research implications.Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy.Improving recognition of Duchenne muscular dystrophy: a retrospective case note reviewDiagnosis of Pompe disease: muscle biopsy vs blood-based assays.
P50
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P50
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onderzoeker
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researcher ORCID ID = 0000-0001-9046-3540
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Volker Straub
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Volker Straub
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Volker Straub
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Volker Straub
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Volker Straub
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Volker Straub
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Volker Straub
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Volker Straub
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Volker Straub
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P106
P31
P496
0000-0001-9046-3540