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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
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00918-5
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- Article
Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.
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- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128614
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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
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.
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- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077430
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- Article
Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068958
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- Article
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31
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- Article
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.
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- JAMA Neurology, 2014, v. 71, n. 1, p. 32, doi. 10.1001/jamaneurol.2013.4908
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- Article
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 2, p. 1, doi. 10.1111/nan.12771
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- Article
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291
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- Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
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- Article
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity.
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- Brain Pathology, 2009, v. 19, n. 4, p. 596, doi. 10.1111/j.1750-3639.2008.00198.x
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- Article
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
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- Acta Neuropathologica, 2017, v. 133, n. 4, p. 517, doi. 10.1007/s00401-016-1656-8
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- Article
Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy.
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- Molecular Therapy, 2012, v. 20, n. 2, p. 462, doi. 10.1038/mt.2011.248
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- Article
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
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- Prenatal Diagnosis, 2004, v. 24, n. 6, p. 440, doi. 10.1002/pd.902
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- Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
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- Human Mutation, 2022, v. 43, n. 4, p. 487, doi. 10.1002/humu.24333
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- Article
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling.
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- Human Mutation, 2013, v. 34, n. 7, p. 986, doi. 10.1002/humu.22326
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- Article
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.
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- Journal of Cachexia, Sarcopenia & Muscle, 2020, v. 11, n. 3, p. 768, doi. 10.1002/jcsm.12542
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- Article
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan.
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- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2853, doi. 10.1093/hmg/ddg307
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- Article
North American cost analysis of brand name versus generic drugs for the treatment of glaucoma.
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- ClinicoEconomics & Outcomes Research, 2019, v. 11, p. 789, doi. 10.2147/CEOR.S156558
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- Article
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194540
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- Article