Filtros de búsqueda

Lista de obras de Volker Straub

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands

artículo científico publicado en 2004

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

artículo científico publicado en 2018

A 'second truncation' in TTN causes early onset recessive muscular dystrophy

artículo científico publicado en 2017

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa

artículo científico publicado en 2015

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

artículo científico publicado en 2018

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 2021

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

artículo científico publicado en 2011

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

artículo científico publicado en 2016

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

scientific article published on 13 July 2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

artículo científico publicado en 2018

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency

artículo científico

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

artículo científico publicado en 2014

Airway nitric oxide in Duchenne muscular dystrophy.

artículo científico publicado en 2002

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

artículo científico publicado en 2008

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

scientific article published on December 2007

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

artículo científico publicado en 2016

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

scientific article published on 13 March 2009

Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism

artículo científico publicado en 2009

BAG3 myopathy is not always associated with cardiomyopathy

scientific article published on 05 July 2018

Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy

artículo científico publicado en 2013

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

artículo científico publicado en 2014

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

artículo científico publicado en 2008

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

artículo científico publicado en 2004

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study

scientific article published on 10 August 2016

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

artículo científico publicado en 2016

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

artículo científico publicado en 2017

Compliance to Care Guidelines for Duchenne Muscular Dystrophy

artículo científico publicado en 2015

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

artículo científico publicado en 2017

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.

artículo científico publicado en 2014

Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy

artículo científico publicado en 2009

Corrigendum to "Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)" [Neuromuscular Disorders 25 (2015) 937-944].

artículo científico publicado en 2016

Das Muskeldystrophie-Netzwerk MD-NET

Deficiency of alpha-dystroglycan in muscle-eye-brain disease

artículo científico publicado en 2002

Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit.

artículo científico publicado en 2013

Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides

artículo científico publicado en 2015

Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT).

artículo científico publicado en 2015

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

artículo científico publicado en 2008

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

artículo científico publicado en 2013

Direct visualization of the dystrophin network on skeletal muscle fiber membrane ⬇️

artículo científico publicado el 1 de diciembre de 1992

Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

artículo científico publicado en 2009

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

artículo científico

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

article

Dysferlin-deficient muscular dystrophy features amyloidosis.

artículo científico publicado en 2008

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy

artículo científico publicado en 2013

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

artículo científico publicado en 2011

Dystrophin quantification: Biological and translational research implications

artículo científico publicado en 2014

Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis

artículo científico publicado en 2016

Emotional impact of a paediatric exon-skipping therapy trial

artículo científico publicado en 2011

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen

artículo científico publicado en 2012

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

artículo científico publicado en 2010

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis

artículo científico publicado en 2007

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

artículo científico publicado en 2013

Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study

artículo científico publicado en 2015

Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy

artículo científico publicado en 2013

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

artículo científico publicado en 2011

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

artículo científico publicado en 2017

Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A

artículo científico publicado en 2009

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

artículo científico publicado en 2017

Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of R2* changes.

artículo científico publicado en 2015

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

artículo científico publicado en 2014

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

artículo científico publicado en 2016

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

artículo científico publicado en 2010

Interventions for muscular dystrophy: molecular medicines entering the clinic

artículo científico publicado en 2009

Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy

artículo científico publicado en 2010

Investigating the quantitative fidelity of prospectively undersampled chemical shift imaging in muscular dystrophy with compressed sensing and parallel imaging reconstruction

artículo científico publicado en 2013

Limb-girdle muscular dystrophies - international collaborations for translational research

artículo científico publicado en 2016

Limb–girdle muscular dystrophies

article published in 2008

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

artículo científico publicado en 2009

Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle

artículo científico publicado en 2010

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

artículo científico publicado en 2019

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

artículo científico

Lower limb radiology of distal myopathy due to the S60F myotilin mutation

scientific article published on 03 July 2009

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes

artículo científico publicado en 2017

Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival

artículo científico publicado en 2007

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

artículo científico publicado en 2013

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

artículo científico publicado en 2014

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

artículo científico publicado en 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

artículo científico publicado en 2007

Multidisciplinary Clinics.

artículo científico publicado en 2017

Muscle MRI findings in limb girdle muscular dystrophy type 2L

article

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

scholarly article by Jordi Diaz-Manera et al published October 2018 in Journal of Neurology, Neurosurgery and Psychiatry

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

artículo científico

Muscular dystrophies and the dystrophin-glycoprotein complex

artículo científico publicado en 1997

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype

artículo científico publicado en 2013

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

artículo científico publicado en 2012

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

artículo científico publicado en 2017

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

artículo científico publicado en 2003

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

artículo científico publicado en 2014

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

artículo científico publicado en 2013

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

artículo científico publicado en 2002

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

artículo científico publicado en 2019

New aspects on patients affected by dysferlin deficient muscular dystrophy

artículo científico publicado en 2009

Noninvasive quantification of fibrosis in skeletal and cardiac muscle in mdx mice using EP3533 enhanced magnetic resonance imaging

Nonmolecular treatment for muscular dystrophies

artículo científico publicado en 2005

Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

scientific article published on 21 March 2020

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

artículo científico publicado en 2015

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

scientific article published on 24 February 2017

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

artículo científico publicado en 2011

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

artículo científico publicado en 2003

Phenotypic variability of TRPV4 related neuropathies

artículo científico publicado en 2015

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

artículo científico publicado en 2002

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors

artículo científico publicado en 2009

Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy

artículo científico publicado en 2015

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

artículo científico publicado en 2016

Psychometric analysis of the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module administered to patients with Duchenne muscular dystrophy: A Rasch analysis

artículo científico publicado en 2018

Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis

artículo científico publicado en 2017

Quantifying the burden of caregiving in Duchenne muscular dystrophy

artículo científico publicado en 2016

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

artículo científico publicado en 2014

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

artículo científico publicado en 2013

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

artículo científico publicado en 2015

Recent advances in the management of Duchenne muscular dystrophy

artículo científico

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

artículo científico publicado en 2010

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

artículo científico publicado en 2016

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

Reduced serum myostatin concentrations associated with genetic muscle disease progression

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017

artículo científico publicado en 2018

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2017

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

artículo científico publicado en 2008

Severe phenotype in infantile facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2006

Short stature and pubertal delay in Duchenne muscular dystrophy

artículo científico

Spontaneous keloid formation in patients with Bethlem myopathy

artículo científico publicado en 2012

Standards of care in neuromuscular fields

artículo científico publicado en 2013

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

artículo científico publicado en 2017

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

artículo científico publicado en 2018

Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy

artículo científico publicado en 2015

The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies

artículo científico publicado en 2015

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

artículo científico publicado en 2016

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

artículo científico publicado en 2018

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

artículo científico publicado en 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

artículo científico publicado en 2015

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

artículo científico publicado en 2013

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

artículo científico publicado en 2017

The burden of Duchenne muscular dystrophy: an international, cross-sectional study

artículo científico publicado en 2014

The childhood limb-girdle muscular dystrophies

artículo científico publicado en 2006

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

artículo científico publicado en 2020

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

artículo científico publicado en 2005

The effects of ageing on mouse muscle microstructure: a comparative study of time-dependent diffusion MRI and histological assessment

artículo científico publicado en 2018

The formation of lipoquinones in tissue cultures (author's transl)

artículo científico publicado el 1 de enero de 1975

The limb-girdle muscular dystrophies--diagnostic strategies

artículo científico publicado en 2006

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

artículo científico publicado en 2005

Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies

artículo científico publicado en 2008

Time-dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy

artículo científico publicado en 2020

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

artículo científico publicado en 2013

Titin mutation segregates with hereditary myopathy with early respiratory failure

artículo científico publicado en 2012

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

artículo científico publicado en 2013

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

artículo científico publicado en 2014

Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis

artículo científico publicado en 2013

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

artículo científico publicado en 2014

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

artículo científico publicado en 2015

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

artículo científico publicado en 2003

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda