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The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-020-01106-1
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- Article
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
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- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00456
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- Article
Affinity proteomics within rare diseases: a BIO- NMD study for blood biomarkers of muscular dystrophies.
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- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 918, doi. 10.15252/emmm.201303724
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- Article
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0258-1
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- Article
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
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- 2015
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- Publication type:
- journal article
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-171
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- Article
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
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- 2020
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- journal article
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
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- 2017
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- journal article
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
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- 2016
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- journal article
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.
- Published in:
- PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0283669
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- Article
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
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- Article
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
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- 2018
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- journal article
Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.
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- Muscle & Nerve, 2024, v. 70, n. 4, p. 843, doi. 10.1002/mus.28214
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- Article
Understanding paediatric data standards challenges through academia‐industry partnerships: A conect4children (c4c) qualitative study.
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- International Journal of Health Planning & Management, 2023, v. 38, n. 2, p. 416, doi. 10.1002/hpm.3592
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- Article
Noninvasive quantification of fibrosis in skeletal and cardiac muscle in mdx mice using EP3533 enhanced magnetic resonance imaging.
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- Magnetic Resonance in Medicine, 2019, v. 81, n. 4, p. 2728, doi. 10.1002/mrm.27578
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- Article
Investigating the quantitative fidelity of prospectively undersampled chemical shift imaging in muscular dystrophy with compressed sensing and parallel imaging reconstruction.
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- Magnetic Resonance in Medicine, 2014, v. 72, n. 6, p. 1610, doi. 10.1002/mrm.25072
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- Article
Use of EP3533-Enhanced Magnetic Resonance Imaging as a Measure of Disease Progression in Skeletal Muscle of mdx Mice.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.636719
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- Article
Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice.
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- Skeletal Muscle, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13395-022-00308-6
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- Article
Elusive sources of variability of dystrophin rescue by exon skipping.
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- Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0070-6
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- Article
δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.
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- Skeletal Muscle, 2011, v. 1, n. 1, p. 1, doi. 10.1186/2044-5040-1-13
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- Article
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0090377
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- Article
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080263
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- Article
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070993
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- Article
Beta-Blockers, Left and Right Ventricular Function, and <i>In-Vivo</i> Calcium Influx in Muscular Dystrophy Cardiomyopathy.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057260
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- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
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- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
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- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
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- 2017
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- journal article
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
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- 2017
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- journal article
Comparison of strength testing modalities in dysferlinopathy.
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- Muscle & Nerve, 2022, v. 66, n. 2, p. 159, doi. 10.1002/mus.27570
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- Article
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study.
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- Muscle & Nerve, 2022, v. 65, n. 1, p. 67, doi. 10.1002/mus.27427
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- Article
Effects of cardiac medications on ventricular function in patients with Duchenne muscular dystrophy–related cardiomyopathy.
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- Muscle & Nerve, 2021, v. 64, n. 2, p. 163, doi. 10.1002/mus.27336
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- Article
Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
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- 2021
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- journal article
Skeletal muscle magnetic resonance imaging in Pompe disease.
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- Muscle & Nerve, 2021, v. 63, n. 5, p. 640, doi. 10.1002/mus.27099
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- Article
Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis.
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- 2018
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- journal article
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy.
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- 2016
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- journal article
Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months.
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- Muscle & Nerve, 2013, v. 48, n. 4, p. 586, doi. 10.1002/mus.23879
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- Article
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
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- Muscle & Nerve, 2010, v. 41, n. 2, p. 166, doi. 10.1002/mus.21166
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- Article
Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study.
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- 2016
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- journal article
Emotional impact of a paediatric exon-skipping therapy trial.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 12, p. 1157, doi. 10.1111/j.1469-8749.2011.04128.x
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- Article
Probing diffusion of water and metabolites to assess white matter microstructure in Duchenne muscular dystrophy.
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- NMR in Biomedicine, 2024, v. 37, n. 11, p. 1, doi. 10.1002/nbm.5212
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- Article
Time‐dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy.
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- NMR in Biomedicine, 2020, v. 33, n. 5, p. 1, doi. 10.1002/nbm.4276
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- Article
The effects of ageing on mouse muscle microstructure: a comparative study of time‐dependent diffusion MRI and histological assessment.
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- NMR in Biomedicine, 2018, v. 31, n. 3, p. 1, doi. 10.1002/nbm.3881
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- Article
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.
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- 2009
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- journal article
MR imaging in Duchenne muscular dystrophy: Quantification of T<sub>1</sub>-weighted signal, contrast uptake, and the effects of exercise.
- Published in:
- Journal of Magnetic Resonance Imaging, 2009, v. 30, n. 5, p. 1130, doi. 10.1002/jmri.21941
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- Article
Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases.
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- Journal of Clinical Medicine, 2021, v. 10, n. 23, p. 5517, doi. 10.3390/jcm10235517
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- Article
Potenziale eines gesellschaftlichen Dialogs zum Thema Bioökonomie.
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- Ökologisches Wirtschaften, 2018, v. 33, n. 1, p. 25, doi. 10.14512/OEW330125
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- Article
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 119, doi. 10.1038/ejhg.2013.97
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- Article
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1038, doi. 10.1038/ejhg.2011.84
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- Article
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
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- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1148, doi. 10.1038/ejhg.2009.17
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- Article
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
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- Publication type:
- Article
Prevention of cardiomyopathy in {delta}-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors.
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- Cardiovascular Research, 2009, v. 82, n. 3, p. 404, doi. 10.1093/cvr/cvp061
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- Article