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Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 679, doi. 10.3233/JND-230107
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- Publication type:
- Article
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 3, p. 151, doi. 10.1038/jhg.2014.112
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- Publication type:
- Article
Proof of Concept of the Ability of the Kinect to Quantify Upper Extremity Function in Dystrophinopathy.
- Published in:
- PLoS Currents, 2013, p. 566, doi. 10.1371/currents.md.9ab5d872bbb944c6035c9f9bfd314ee2
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- Publication type:
- Article
A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy.
- Published in:
- PLoS Currents, 2013, p. 72, doi. 10.1371/currents.md.2cc69a1dae4be7dfe2bcb420024ea865
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- Publication type:
- Article
General anesthesia with a native airway for patients with mucopolysaccharidosis type III.
- Published in:
- Pediatric Anesthesia, 2017, v. 27, n. 4, p. 370, doi. 10.1111/pan.13108
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- Publication type:
- Article
Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy.
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- Pediatric Anesthesia, 2014, v. 24, n. 8, p. 851, doi. 10.1111/pan.12387
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- Publication type:
- Article
A Phase 1/2a Follistatin Gene Therapy Trial for Becker Muscular Dystrophy.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 1, p. 192, doi. 10.1038/mt.2014.200
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- Publication type:
- Article
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 22, p. 2895, doi. 10.1093/hmg/ddg327
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- Publication type:
- Article
Diabetic Myonecrosis in a Cystic Fibrosis Patient.
- Published in:
- Respiratory Care, 2013, v. 58, n. 10, p. e123, doi. 10.4187/respcare.02299
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- Publication type:
- Article
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 4, p. 668, doi. 10.1002/ana.24365
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- Publication type:
- Article
Eteplirsen for the treatment of Duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 5, p. 637, doi. 10.1002/ana.23982
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- Publication type:
- Article
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 481, doi. 10.1002/ana.23819
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- Publication type:
- Article
Placebo‐controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 8, p. 913, doi. 10.1002/acn3.579
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- Publication type:
- Article
RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 7, p. 1417, doi. 10.1038/mt.2012.68
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- Publication type:
- Article
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.
- Published in:
- Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00239-0
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- Publication type:
- Article
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 6, p. 440, doi. 10.1002/pd.902
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- Publication type:
- Article
A Comparative Study of <i>N</i>-glycolylneuraminic Acid (Neu5Gc) and Cytotoxic T Cell (CT) Carbohydrate Expression in Normal and Dystrophin-Deficient Dog and Human Skeletal Muscle.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088226
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- Publication type:
- Article
Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081302
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- Publication type:
- Article
Identification of New Dystroglycan Complexes in Skeletal Muscle.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073224
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- Publication type:
- Article
Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 3, p. 1, doi. 10.1111/nan.12785
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- Publication type:
- Article
Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0146-6
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- Publication type:
- Article
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
- Published in:
- Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0062-6
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- Publication type:
- Article
How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0281-2
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- Publication type:
- Article
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0258-1
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- Publication type:
- Article
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
- Published in:
- 2015
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- Publication type:
- journal article
Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons.
- Published in:
- EMBO Journal, 2005, v. 24, n. 8, p. 1596, doi. 10.1038/sj.emboj.7600642
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- Publication type:
- Article
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
- Published in:
- 2008
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- Publication type:
- journal article
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
- Published in:
- Human Mutation, 2009, v. 30, n. 12, p. 1657, doi. 10.1002/humu.21114
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- Publication type:
- Article
Mutation-specific database and bioinformatics resource for DMD.
- Published in:
- 2009
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- Publication type:
- Other
DMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 633, doi. 10.1002/humu.20913
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- Publication type:
- Article
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 411, doi. 10.1002/humu.20879
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- Publication type:
- Article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
- Published in:
- 2016
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- Publication type:
- journal article
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 632, doi. 10.1002/humu.23950
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- Publication type:
- Article
The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations.
- Published in:
- Human Mutation, 2014, v. 35, n. 2, p. 257, doi. 10.1002/humu.22479
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- Publication type:
- Article
Position of Glycine Substitutions in the Triple Helix of COL6 A1, COL6 A2, and COL6 A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1558, doi. 10.1002/humu.22429
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- Publication type:
- Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426
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- Publication type:
- Article
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 557, doi. 10.1002/ajmg.a.61452
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- Publication type:
- Article
Low‐level expression of <italic>EPG5</italic> leads to an attenuated Vici syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1207, doi. 10.1002/ajmg.a.38676
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- Publication type:
- Article
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 6, p. 833, doi. 10.1002/mus.27976
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- Publication type:
- Article
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 6, p. 833, doi. 10.1002/mus.27976
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- Publication type:
- Article
Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 5, p. 614, doi. 10.1002/mus.27396
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- Publication type:
- Article
Twice‐weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2019, v. 59, n. 6, p. 650, doi. 10.1002/mus.26441
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- Publication type:
- Article
Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Modeling functional decline over time in sporadic inclusion body myositis.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.
- Published in:
- 2016
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- Publication type:
- journal article
Reliability and validity of active-seated: An outcome in dystrophinopathy.
- Published in:
- Muscle & Nerve, 2015, v. 52, n. 3, p. 356, doi. 10.1002/mus.24557
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- Publication type:
- Article
Outcome reliability in non-Ambulatory Boys/Men with duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 522, doi. 10.1002/mus.24346
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- Publication type:
- Article
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 4, p. 477, doi. 10.1002/mus.24332
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- Publication type:
- Article