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Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy
- Published in:
- 2023
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- Publication type:
- Letter
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 315, doi. 10.3233/JND-221648
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- Publication type:
- Article
Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis.
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- 2017
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- Publication type:
- journal article
Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis.
- Published in:
- PLoS Currents, 2013, p. 986, doi. 10.1371/currents.md.37f840ca67f5e722945ecf755f40487e
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- Publication type:
- Article
Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: "Translating" the Translational.
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- PLoS Currents, 2013, p. 318, doi. 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec
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- Publication type:
- Article
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
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- Cell Death & Disease, 2023, v. 14, n. 9, p. 1, doi. 10.1038/s41419-023-06103-5
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- Publication type:
- Article
Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy.
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- Journal of Cardiovascular Magnetic Resonance (BioMed Central), 2013, v. 15, n. 1, p. 4, doi. 10.1186/1532-429X-15-4
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- Publication type:
- Article
Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy.
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- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198897
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- Publication type:
- Article
Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients.
- Published in:
- 2021
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- Publication type:
- journal article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- 2017
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- Publication type:
- journal article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
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- Publication type:
- 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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- Publication type:
- journal 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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- Publication type:
- 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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- Publication type:
- Article
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.
- Published in:
- 2009
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- Publication type:
- journal article
MR imaging in Duchenne muscular dystrophy: Quantification of T<sub>1</sub>-weighted signal, contrast uptake, and the effects of exercise.
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- Journal of Magnetic Resonance Imaging, 2009, v. 30, n. 5, p. 1130, doi. 10.1002/jmri.21941
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- Publication type:
- Article
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
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- Nature, 2002, v. 418, n. 6896, p. 417, doi. 10.1038/nature00837
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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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- Publication type:
- Article
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
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- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2353, doi. 10.1093/hmg/ddt637
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- Publication type:
- Article
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
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- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2339, doi. 10.1093/hmg/ddt627
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- Publication type:
- Article
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome.
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- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3761, doi. 10.1093/hmg/ddt227
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- Publication type:
- Article
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
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- Human Molecular Genetics, 2011, v. 20, n. 24, p. 4879, doi. 10.1093/hmg/ddr426
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- Publication type:
- Article
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1726, doi. 10.1093/hmg/ddq049
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- Publication type:
- Article
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
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- Human Molecular Genetics, 2009, v. 18, n. 11, p. 1976, doi. 10.1093/hmg/ddp121
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- Publication type:
- Article
A 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.
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- Clinical Trials, 2021, v. 18, n. 1, p. 39, doi. 10.1177/1740774520958395
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- Publication type:
- 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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- Publication type:
- Article
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
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- 2020
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- Publication type:
- 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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- Publication type:
- journal article
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
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- 2020
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- Publication type:
- journal article
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy.
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- Magnetic Resonance in Medicine, 2000, v. 44, n. 4, p. 655, doi. 10.1002/1522-2594(200010)44:4<655::AID-MRM22>3.0.CO;2-T
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- Publication type:
- Article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 757, doi. 10.1002/acn3.51042
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- Article
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1033, doi. 10.1002/acn3.774
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- Publication type:
- Article
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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- Publication type:
- Article
Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.
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- Genes, 2020, v. 11, n. 7, p. 716, doi. 10.3390/genes11070716
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- Publication type:
- 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
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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- Publication type:
- 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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- Publication type:
- 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
Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study.
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- PLoS ONE, 2024, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0304984
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- Publication type:
- Article
Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area.
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- European Journal of Endocrinology, 2021, v. 184, n. 1, p. 67, doi. 10.1530/EJE-20-0709
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- Publication type:
- Article
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7793, doi. 10.3390/ijms25147793
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- Publication type:
- Article
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations.
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- PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000874
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- Publication type:
- Article
How Can a Clinical Data Modelling Tool Be Used to Represent Data Items of Relevance to Paediatric Clinical Trials? Learning from the Conect4children (c4c) Consortium.
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- Applied Sciences (2076-3417), 2022, v. 12, n. 3, p. 1604, doi. 10.3390/app12031604
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- Publication type:
- Article
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
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- Journal of Cachexia, Sarcopenia & Muscle, 2020, v. 11, n. 2, p. 505, doi. 10.1002/jcsm.12517
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- Article
Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies.
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- Journal of Cachexia, Sarcopenia & Muscle, 2018, v. 9, n. 4, p. 715, doi. 10.1002/jcsm.12304
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- Publication type:
- 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
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.
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- PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0283669
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- Publication type:
- Article
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy.
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- Journal of Neurology, 2020, v. 267, n. 7, p. 2022, doi. 10.1007/s00415-020-09800-9
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- Article
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
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- Journal of Neurology, 2020, v. 267, n. 1, p. 45, doi. 10.1007/s00415-019-09539-y
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- Publication type:
- Article